(used for variant description)
(last modified July 10, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_001100117.2 in the RIMS2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_053027.1, covering RIMS2 transcript NM_001100117.2.
(upstream sequence)
. g.5019
gctgtcgccttggattgaa c.-121
. . . . . . g.5079
ggccattgatttgtatgtatttgtcccagcgctggaggctgccccagccgccgcgccggt c.-61
. . . . . . g.5139
gccgccgctgccagtggagttgcctccccgcttccctagggtggttcggctccaccaaac c.-1
. . . . . . g.5199
ATGTCGGCTCCTGTCGGGCCCCGGGGCCGCCTGGCTCCCATCCCGGCGGCCTCTCAGCCG c.60
M S A P V G P R G R L A P I P A A S Q P p.20
. . . . . . g.5259
CCTCTGCAGCCCGAGATGCCTGACCTCAGCCACCTCACGGAGGAGGAGAGGAAAATCATC c.120
P L Q P E M P D L S H L T E E E R K I I p.40
. . . . . | 02 . g.201342
CTGGCCGTCATGGATAGGCAGAAGAAAGAAGAGGAGAAGGAGCAGTCCGTGCTCAA | AAAA c.180
L A V M D R Q K K E E E K E Q S V L K | K p.60
. . . . . . g.201402
CTGCATCAGCAGTTTGAAATGTATAAAGAGCAGGTAAAGAAGATGGGAGAAGAATCACAG c.240
L H Q Q F E M Y K E Q V K K M G E E S Q p.80
. . . . . . g.201462
CAACAGCAAGAACAGAAGGGTGATGCGCCAACCTGTGGTATCTGCCACAAAACAAAGTTT c.300
Q Q Q E Q K G D A P T C G I C H K T K F p.100
. . . . . . g.201522
GCTGATGGATGTGGCCATAACTGTTCATATTGCCAAACAAAGTTCTGTGCTCGTTGTGGA c.360
A D G C G H N C S Y C Q T K F C A R C G p.120
. . | 03. . . . g.270512
GGTCGAGTGTCATTACGCTCAAACAAG | GTTATGTGGGTATGTAATTTGTGCCGAAAACAA c.420
G R V S L R S N K | V M W V C N L C R K Q p.140
. . . . . . g.270572
CAAGAAATCCTCACTAAATCAGGAGCATGGTTTTATAATAGTGGATCTAATACACCACAG c.480
Q E I L T K S G A W F Y N S G S N T P Q p.160
. . . . . . g.270632
CAACCTGATCAAAAGGTTCTTCGAGGGCTAAGAAATGAGGAGGCACCTCAGGAGAAGAAA c.540
Q P D Q K V L R G L R N E E A P Q E K K p.180
. . . . . . g.270692
CCAAAACTACATGAGCAGACCCAGTTCCAAGGACCCTCAGGTGACTTATCTGTACCTGCA c.600
P K L H E Q T Q F Q G P S G D L S V P A p.200
. . . . . . g.270752
GTGGAGAAAAGTCGATCTCATGGGCTCACAAGACAGCATTCTATTAAAAATGGGTCAGGC c.660
V E K S R S H G L T R Q H S I K N G S G p.220
. . . | 04 . . g.389572
GTGAAGCATCACATTGCCAGTGACATAGCTTCAGACAG | GAAAAGAAGCCCATCTGTGTCC c.720
V K H H I A S D I A S D R | K R S P S V S p.240
. . . . . . g.389632
AGAGATCAGAATAGAAGATACGACCAAAGGGAAGAAAGAGAGGAATATTCACAGTATGCT c.780
R D Q N R R Y D Q R E E R E E Y S Q Y A p.260
. . . . . . g.389692
ACTTCGGATACCGCAATGCCTAGATCTCCATCAGATTATGCTGATAGGCGATCTCAACAT c.840
T S D T A M P R S P S D Y A D R R S Q H p.280
. . . . . . g.389752
GAACCTCAGTTTTATGAAGACTCTGATCATTTAAGTTATAGGGACTCCAACAGGAGAAGT c.900
E P Q F Y E D S D H L S Y R D S N R R S p.300
. . . . . . g.389812
CATAGGCATTCCAAAGAATATATTGTAGATGATGAGGATGTGGAAAGCAGAGATGAATAC c.960
H R H S K E Y I V D D E D V E S R D E Y p.320
. . . . . . g.389872
GAAAGGCAAAGGAGAGAGGAAGAGTACCAGTCACGCTACCGAAGTGATCCGAATTTGGCC c.1020
E R Q R R E E E Y Q S R Y R S D P N L A p.340
. . . . . . g.389932
CGTTATCCAGTAAAGCCACAACCCTATGAAGAACAAATGCGGATCCATGCTGAAGTGTCC c.1080
R Y P V K P Q P Y E E Q M R I H A E V S p.360
. . . . . . g.389992
CGAGCACGGCATGAGAGAAGGCATAGTGATGTTTCTTTGGCAAATGCTGATCTGGAAGAT c.1140
R A R H E R R H S D V S L A N A D L E D p.380
. . . . . . g.390052
TCCAGGATTTCTATGCTAAGGATGGATCGACCATCAAGGCAAAGATCTATATCAGAACGT c.1200
S R I S M L R M D R P S R Q R S I S E R p.400
. . . . . . g.390112
AGAGCTGCCATGGAAAATCAGCGATCTTATTCAATGGAAAGAACTCGAGAGGCTCAGGGA c.1260
R A A M E N Q R S Y S M E R T R E A Q G p.420
. . . . . . g.390172
CCAAGTTCTTATGCACAAAGGACCACAAACCATAGTCCTCCTACCCCCAGGAGGAGTCCA c.1320
P S S Y A Q R T T N H S P P T P R R S P p.440
. . . . . . g.390232
CTACCCATAGATAGACCAGACTTGAGGCGTACTGACTCACTACGGAAACAGCACCACTTA c.1380
L P I D R P D L R R T D S L R K Q H H L p.460
. . . . . . g.390292
GATCCTAGCTCTGCTGTAAGAAAAACAAAACGGGAAAAAATGGAAACAATGTTAAGGAAT c.1440
D P S S A V R K T K R E K M E T M L R N p.480
. . . . . . g.390352
GATTCTCTCAGTTCAGACCAGTCAGAGTCAGTGAGACCTCCACCACCAAAGCCTCATAAA c.1500
D S L S S D Q S E S V R P P P P K P H K p.500
. . . . . . g.390412
TCAAAGAAAGGCGGTAAAATGCGCCAGATTTCGTTGAGCAGTTCAGAGGAGGAATTGGCT c.1560
S K K G G K M R Q I S L S S S E E E L A p.520
. . . . . . g.390472
TCCACGCCTGAATATACAAGTTGTGATGATGTTGAGATTGAAAGTGAGAGTGTAAGTGAA c.1620
S T P E Y T S C D D V E I E S E S V S E p.540
| 05 . . . . . . g.414442
AAAG | GAGACATGGATTACAACTGGTTGGATCATACGTCTTGGCATAGCAGTGAGGCATCC c.1680
K G | D M D Y N W L D H T S W H S S E A S p.560
. | 06 . . . . . g.416353
CCAATGTCTTTG | CACCCTGTAACCTGGCAACCATCTAAAGATGGAGATCGTTTAATTGGT c.1740
P M S L | H P V T W Q P S K D G D R L I G p.580
. . . . . . g.416413
CGCATTTTATTAAATAAGCGTCTAAAAGATGGAAGTGTACCTCGAGATTCAGGAGCAATG c.1800
R I L L N K R L K D G S V P R D S G A M p.600
. | 07 . . . . . g.419795
CTTGGCTTGAAG | GTTGTAGGAGGAAAGATGACTGAATCAGGTCGGCTTTGTGCATTTATT c.1860
L G L K | V V G G K M T E S G R L C A F I p.620
. . . . . | 08 . g.420674
ACTAAAGTAAAAAAAGGAAGTTTAGCTGATACTGTAGGACATCTTAGACCAG | GTGATGAA c.1920
T K V K K G S L A D T V G H L R P G | D E p.640
. . . . . . g.420734
GTATTAGAATGGAATGGAAGACTACTGCAAGGAGCCACATTTGAGGAAGTGTACAACATC c.1980
V L E W N G R L L Q G A T F E E V Y N I p.660
. . . . . | 09 . g.422697
ATTCTAGAATCCAAACCTGAACCACAAGTAGAACTTGTAGTTTCAAGGCCTATTGG | AGAT c.2040
I L E S K P E P Q V E L V V S R P I G | D p.680
. . . . | 10 . . g.425941
ATACCGCGAATACCTGATAGCACACATGCACAACTGGAGTCCA | GTTCTAGCTCCTTTGAA c.2100
I P R I P D S T H A Q L E S S | S S S F E p.700
. . . . . . g.426001
TCTCAAAAAATGGATCGTCCTTCTATTTCTGTTACCTCTCCCATGAGTCCTGGAATGTTG c.2160
S Q K M D R P S I S V T S P M S P G M L p.720
. . . | 11 . . . g.432118
AGGGATGTCCCACAGTTCTTATCAGGACAACTTTCA | AGCCAAAGCCTTAGTAGAAGAACA c.2220
R D V P Q F L S G Q L S | S Q S L S R R T p.740
. . | 12 . . . . g.435551
ACGCCTTTTGTTCCTAGGGTTCAG | ATAAAACTATGGTTTGACAAGGTTGGTCACCAATTA c.2280
T P F V P R V Q | I K L W F D K V G H Q L p.760
. . . . . . g.435611
ATAGTTACAATTTTGGGAGCAAAAGATCTCCCTTCCAGGGAAGATGGGAGGCCAAGGAAT c.2340
I V T I L G A K D L P S R E D G R P R N p.780
. . . | 13 . . . g.440828
CCTTATGTTAAAATTTACTTTCTTCCAGACAGAAG | TGATAAAAACAAGAGAAGAACTAAA c.2400
P Y V K I Y F L P D R S | D K N K R R T K p.800
. . . . . . g.440888
ACAGTAAAGAAAACATTGGAACCCAAATGGAACCAAACATTCATTTATTCTCCAGTCCAC c.2460
T V K K T L E P K W N Q T F I Y S P V H p.820
. . . . . . g.440948
CGAAGAGAATTTCGGGAACGAATGCTAGAGATTACCCTTTGGGATCAAGCTCGTGTTCGA c.2520
R R E F R E R M L E I T L W D Q A R V R p.840
. . | 14. . . . g.447058
GAGGAAGAAAGTGAATTCTTAGGCGAG | ATTTTAATTGAATTAGAAACAGCATTATTAGAT c.2580
E E E S E F L G E | I L I E L E T A L L D p.860
. . . . . . g.447118
GATGAGCCACATTGGTACAAACTTCAGACGCATGATGTCTCTTCATTGCCACTTCCCCAC c.2640
D E P H W Y K L Q T H D V S S L P L P H p.880
. . . . . . g.447178
CCTTCTCCATATATGCCACGAAGACAGCTCCATGGAGAGAGCCCAACACGGAGGTTGCAA c.2700
P S P Y M P R R Q L H G E S P T R R L Q p.900
| 15 . . . . . . g.465376
A | GGTCAAAGAGAATAAGTGATAGTGAAGTCTCTGACTATGACTGTGATGATGGAATTGGT c.2760
R | S K R I S D S E V S D Y D C D D G I G p.920
. | 16 . . . . . g.479652
GTAGTATCAG | ATTATCGACATGATGGTCGAGATCTTCAAAGCTCAACATTATCAGTGCCA c.2820
V V S D | Y R H D G R D L Q S S T L S V P p.940
. . . . . . g.479712
GAACAAGTAATGTCATCAAACCACTGTTCACCATCAGGGTCTCCTCATCGAGTAGATGTT c.2880
E Q V M S S N H C S P S G S P H R V D V p.960
. . . . | 17. . g.493570
ATAGGAAGGACTAGATCATGGTCACCCAGTGTCCCTCCTCCACAAAG | TCGGAATGTGGAA c.2940
I G R T R S W S P S V P P P Q S | R N V E p.980
. . . . . . g.493630
CAGGGGCTTCGAGGGACCCGCACTATGACCGGACATTATAATACAATTAGCCGAATGGAC c.3000
Q G L R G T R T M T G H Y N T I S R M D p.1000
. . . . | 18 . . g.517710
AGACATCGTGTCATGGATGACCATTATTCTCCAGATAGAGACAG | GGATTGTGAAGCAGCA c.3060
R H R V M D D H Y S P D R D R | D C E A A p.1020
. . . . . . g.517770
GATAGACAGCCATATCACAGATCCAGATCAACAGAACAACGGCCTCTCCTTGAGCGGACC c.3120
D R Q P Y H R S R S T E Q R P L L E R T p.1040
. . . . . . g.517830
ACCACCCGCTCCAGATCCACTGAACGTCCTGATACAAACCTCATGAGGTCGATGCCTTCA c.3180
T T R S R S T E R P D T N L M R S M P S p.1060
. . . . | 19 . . g.518774
TTAATGACTGGAAGATCTGCCCCTCCTTCACCTGCCTTATCGAG | GTCTCATCCTCGTACT c.3240
L M T G R S A P P S P A L S R | S H P R T p.1080
. . . . . . g.518834
GGGTCTGTCCAGACAAGCCCATCAAGTACTCCAGTCGCAGGACGAAGGGGCCGACAGCTT c.3300
G S V Q T S P S S T P V A G R R G R Q L p.1100
. . . | 20 . . . g.749194
CCACAGCTTCCACCAAAGGGAACGTTGGATAGAA | AAGCAGGAGGTAAAAAACTAAGGAGC c.3360
P Q L P P K G T L D R K | A G G K K L R S p.1120
. . . . . . g.749254
ACTGTCCAAAGAAGTACAGAAACAGGCCTGGCCGTGGAAATGAGGAACTGGATGACTCGA c.3420
T V Q R S T E T G L A V E M R N W M T R p.1140
. . . . . | 21 . g.752957
CAGGCAAGCCGAGAGTCTACAGATGGTAGCATGAACAGCTACAGCTCAGAAGGAAA | TCTG c.3480
Q A S R E S T D G S M N S Y S S E G N | L p.1160
. . . . . . g.753017
ATTTTCCCTGGTGTTCGCTTGGCCTCTGATAGCCAGTTCAGTGATTTCCTGGATGGCCTT c.3540
I F P G V R L A S D S Q F S D F L D G L p.1180
. . . . | 22 . g.753750
GGCCCTGCTCAGCTAGTGGGACGCCAGACTCTGGCAACACCTGCAATGG | GTGACATTCAG c.3600
G P A Q L V G R Q T L A T P A M G | D I Q p.1200
. . . . . . g.753810
GTAGGAATGATGGACAAAAAGGGACAGCTGGAGGTAGAAATCATCCGGGCCCGTGGCCTT c.3660
V G M M D K K G Q L E V E I I R A R G L p.1220
. . . | 23 . . . g.755305
GTTGTAAAACCAGGTTCCAAGACACTGCCAG | CACCGTATGTAAAAGTGTATCTATTAGAT c.3720
V V K P G S K T L P A | P Y V K V Y L L D p.1240
. . . . . . g.755365
AACGGAGTCTGCATAGCCAAAAAGAAAACAAAAGTGGCAAGAAAAACGCTGGAACCCCTT c.3780
N G V C I A K K K T K V A R K T L E P L p.1260
. . . . . | 24 . g.755863
TACCAGCAGCTATTATCTTTCGAAGAGAGTCCACAAGGAAAAGTTTTACAG | ATCATCGTC c.3840
Y Q Q L L S F E E S P Q G K V L Q | I I V p.1280
. . . . . . g.755923
TGGGGAGATTATGGCCGCATGGATCACAAATCTTTTATGGGAGTGGCCCAGATACTTTTA c.3900
W G D Y G R M D H K S F M G V A Q I L L p.1300
. . . . . . g.755983
GATGAACTAGAGCTATCCAATATGGTGATCGGATGGTTCAAACTTTTCCCACCTTCCTCC c.3960
D E L E L S N M V I G W F K L F P P S S p.1320
. . . . . . g.756043
CTAGTAGATCCAACCTTGGCCCCTCTGACAAGAAGAGCTTCCCAATCATCTCTGGAAAGT c.4020
L V D P T L A P L T R R A S Q S S L E S p.1340
. . . g.756073
TCAACTGGACCTTCTTACTCTCGTTCATAG c.4050
S T G P S Y S R S X p.1349
. . . . . . g.756133
cagctgtaaaaaaattgttgtcacagcaaccagcgttacaaaaaaaaaaaaaaaaatcac c.*60
. . . . . . g.756193
aggttgcaaaccctggtaacactgcatgcttaatgttgtgtcttctgagcctgtttctag c.*120
. . . . . . g.756253
ggatacaaagcaatcctgtgttctcagaggaagttgcacacattgtgccctaaagaaggc c.*180
. . . . . . g.756313
cctcaggtgaaagagcagagctgtgaagaactatcagatttggaattcaatgacactcga c.*240
. . . . . . g.756373
gttctggtccaatctgaagccatggattaatctcaaagaatcagtcagtttcatgcaaca c.*300
. . . . . . g.756433
gaagcccttttcaatggcacctttatatttttatcattcctttttcttcatttatctaac c.*360
. . . . . . g.756493
cccaaagccctgatatgccacagaaatggagctatacagccatgaagcggtgttacaggt c.*420
. . . . . . g.756553
gaggagtgtaatcctaggaagcatcaggtgaaaagcaggagaccaaagaagtggtcagga c.*480
. . . . . . g.756613
acaatcatcagccctcctctgggcgggaatcagagcagtcagtccagcaggaagagtggc c.*540
. . . . . . g.756673
agactttgtagctccatgggcacgtcaattactaatgctaagatgtgttggactctgaaa c.*600
. . . . . . g.756733
aacaaaattctgtggctacactgtactgaatgaaattaaagaaactttttttgcatggac c.*660
. . . . . . g.756793
acagattagctgaatacttaaattattttcttggggctgcaacttgcaaaaaaaaaaaaa c.*720
. . . . . . g.756853
agaataaaaatcagccattttcaacaatttatattatttttaaaaataaatttcactagt c.*780
. . . . . . g.756913
gcatggttttaaaaaggagagagaatgcaacagggtgatacaaagatacaccatgtttat c.*840
. . . . . . g.756973
tctttaatcatagtctgtgttttggcagacattacaaatggaaatactttctagaagata c.*900
. . . . . . g.757033
cttaaaattctctttatgtgacaaataagtataatatattcaatttatttccatgttaaa c.*960
. . . . . . g.757093
tatacaaatcttatgaagttcaatatgtgcaaatttttcacatctttctccttctctcac c.*1020
. . . . . . g.757153
tttacctcttctccctcttttaaacttttctttctccctgccagagtgaaccttatacta c.*1080
. . . . . . g.757213
aaaaattacaagttttgatctgatcctctctcataccccatgtttgattcagagctgtag c.*1140
. . . . . . g.757273
atgcctctgaatttgcgaatttctcaagggaaaattaactttaagagctttctttatttc c.*1200
. . . . . . g.757333
aagcatgttgaaaaggattttgcaacatgacttgggagtacattaaagtaagtcagcatg c.*1260
. . . . . . g.757393
tatttgacgaagaagatatttgaacttttgcagtttattgtacagtgcatggtaattttt c.*1320
. . . . . . g.757453
tcacctttaaaattcagtttacaggaaaattctaaaatcatgttgccattgtgatgtcca c.*1380
. . . . . . g.757513
ataaatttgtttttagcaccagcattattcatacaggggttaaagtattatttgtagaag c.*1440
. . . . . . g.757573
gtcttaggttttgtttgttttttaatcatttaaagcaatttctttagccagtttccattt c.*1500
. . . . . . g.757633
actatgtgaatagaagcactgctaaaaattgggaaccctgaaacacagggctgtttatta c.*1560
. . . . . . g.757693
attcatttttctgtagtaaaattcaatttttcacaaattatatttctaaagaaatatagt c.*1620
. . . . . . g.757753
aaacataaatttgcaacaattttaaagctccagtttttaggtgactcaaagaaagtcatt c.*1680
. . . . . . g.757813
atgcctattaatagttatttgatgccatcaccaaaagtctatgtgaaaatctcctaaagt c.*1740
. . . . . . g.757873
caaaacccctgcctttggttttacagacggttattaccattgggtggagctgcaaggtca c.*1800
. . . . . . g.757933
aatttctcctaagttcccctatttagaggaaaagtcactggttattgtaataaaccaccc c.*1860
. . . . . . g.757993
atggttctttatgtacattttgataacacattattatagcttgattttaattttttgcat c.*1920
. . . . . . g.758053
taatttttgaaatccacatacatctcatttgtttaaattaaggccatgcacaaatatttt c.*1980
. . . . . . g.758113
ttttagttcagtgctgaccattaaaaactatcatgcttgatacggtgcaaaagttaaaat c.*2040
. . . . . . g.758173
gagtatcactaaaaatgccttctttttatgtggtgcaatatgaaatacaccaagactgtg c.*2100
. . . . . . g.758233
tcttgacattctgatggacccaggtaaagttgttaaaagaacgaataaaactttattaaa c.*2160
. . . . . . g.758293
ataatttagacacctgtgtaccagcaacaattgatttaatagacctatagtgtctatact c.*2220
. . . . . . g.758353
atcccttagaataaaggtttatgattttcctgatactaagatgcagtcacataatctttt c.*2280
. . . . . . g.758413
gtgcatattcctatacaaattatttctaattttaataagaaggacgtgactacggaatat c.*2340
. . . . . . g.758473
ttgtacatacttgtcattatgcagtatttatttaaaagttggtgtttttttttaattttc c.*2400
. . . . . . g.758533
acatctgcacctcgacttgtggtttagtcatgtaactagcactatgccagtgaccgttgt c.*2460
. . . . . . g.758593
tgccctgtacatagtatgtttgaaaagtaaagggaattccagttgggaaaaaagggcaga c.*2520
. . . . . . g.758653
ttagtcctgtaatgaacaccaactaatgtaaatcaaattcattctggtgatggtatttaa c.*2580
. . g.758681
cactttaaataaaacattttctttacag c.*2608
(downstream sequence)
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