(used for variant description)
(last modified January 26, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_015271.3 in the TRIM2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000004.11, covering TRIM2 transcript NM_015271.3.
(upstream sequence)
. . g.56353
agcttgatgactataatgggcccag c.-61
. . . . . . g.56413
ttgtctgcgggctgcggggagctaagtccccagattggaggaggctggctctggtcttcg c.-1
. . . | 02 . . . g.122247
ATGCACAGGAGTGGCCGTTATGGAACGCAG | CAGCAGCGTGCAGGGTCAAAGACAGCCGGC c.60
M H R S G R Y G T Q | Q Q R A G S K T A G p.20
. . . . . . g.122307
CCCCCATGTCAGTGGTCTAGGATGGCCAGTGAAGGCACCAACATCCCAAGTCCTGTGGTG c.120
P P C Q W S R M A S E G T N I P S P V V p.40
. . . . . . g.122367
CGCCAGATTGACAAGCAGTTTCTGATTTGCAGTATATGCCTGGAACGGTACAAGAATCCC c.180
R Q I D K Q F L I C S I C L E R Y K N P p.60
. . . | 03 . . . g.127800
AAGGTTCTCCCCTGTCTGCACACTTTCTGCGAGAG | GTGCCTGCAGAACTACATTCCTGCC c.240
K V L P C L H T F C E R | C L Q N Y I P A p.80
. . . . . . g.127860
CACAGTTTAACCCTCTCCTGCCCAGTGTGCCGCCAGACCTCCATCCTGCCCGAGAAAGGG c.300
H S L T L S C P V C R Q T S I L P E K G p.100
. . . . . . g.127920
GTGGCCGCGCTCCAGAACAATTTCTTCATCACAAACCTGATGGACGTGCTGCAGCGAACT c.360
V A A L Q N N F F I T N L M D V L Q R T p.120
. . . . . . g.127980
CCAGGCAGCAACGCTGAGGAGTCTTCCATCCTGGAGACAGTCACTGCTGTGGCTGCGGGA c.420
P G S N A E E S S I L E T V T A V A A G p.140
. . . | 04 . . . g.144891
AAGCCTCTCTCTTGCCCAAACCACGATGGGAAT | GTGATGGAATTTTACTGCCAGTCCTGT c.480
K P L S C P N H D G N | V M E F Y C Q S C p.160
. . . . . . g.144951
GAGACTGCCATGTGTCGGGAGTGCACGGAGGGGGAGCACGCAGAGCACCCCACAGTTCCA c.540
E T A M C R E C T E G E H A E H P T V P p.180
. . . . . . g.145011
CTCAAGGATGTGGTGGAACAGCACAAGGCCTCGCTCCAGGTCCAGCTGGATGCTGTCAAC c.600
L K D V V E Q H K A S L Q V Q L D A V N p.200
| 05 . . . . . . g.146242
AAAAG | GCTCCCAGAAATAGATTCTGCTCTTCAGTTCATCTCTGAAATCATTCATCAGTTA c.660
K R | L P E I D S A L Q F I S E I I H Q L p.220
. . . . . . g.146302
ACCAACCAAAAGGCCAGCATCGTGGATGACATTCATTCCACCTTTGATGAGCTCCAGAAG c.720
T N Q K A S I V D D I H S T F D E L Q K p.240
. . . . . . g.146362
ACTTTAAATGTGCGCAAGAGTGTGCTGCTTATGGAATTGGAGGTCAACTATGGCCTCAAA c.780
T L N V R K S V L L M E L E V N Y G L K p.260
| 06 . . . . . . g.147249
CACAAA | GTCCTCCAGTCGCAGCTGGATACTCTGCTCCAGGGGCAGGAGAGCATTAAGAGC c.840
H K | V L Q S Q L D T L L Q G Q E S I K S p.280
. . . . . . g.147309
TGCAGCAACTTCACAGCGCAGGCCCTCAACCATGGCACGGAGACCGAGGTCCTACTGGTG c.900
C S N F T A Q A L N H G T E T E V L L V p.300
. . . . . . g.147369
AAGAAGCAGATGAGCGAGAAGCTGAACGAGCTGGCCGACCAGGACTTCCCCTTGCACCCG c.960
K K Q M S E K L N E L A D Q D F P L H P p.320
. . . . . . g.147429
CGGGAGAACGACCAGCTGGATTTCATCGTGGAAACCGAGGGGCTGAAGAAGTCCATCCAC c.1020
R E N D Q L D F I V E T E G L K K S I H p.340
. . . . . . g.147489
AACCTCGGGACGATCTTAACCACCAACGCCGTTGCCTCAGAGACAGTGGCCACGGGCGAG c.1080
N L G T I L T T N A V A S E T V A T G E p.360
. . . . . . g.147549
GGGCTGCGGCAGACCATCATCGGGCAGCCCATGTCCGTCACCATCACCACCAAGGACAAA c.1140
G L R Q T I I G Q P M S V T I T T K D K p.380
. . . . . . g.147609
GACGGTGAGCTGTGCAAAACCGGCAACGCCTACCTCACCGCCGAACTGAGCACCCCCGAC c.1200
D G E L C K T G N A Y L T A E L S T P D p.400
. . . . . . g.147669
GGGAGCGTGGCAGACGGGGAGATCCTGGACAACAAGAACGGCACCTATGAGTTTTTGTAC c.1260
G S V A D G E I L D N K N G T Y E F L Y p.420
. . . . . . g.147729
ACTGTCCAGAAGGAAGGGGACTTTACCCTGTCTCTGAGACTCTATGACCAGCACATCCGA c.1320
T V Q K E G D F T L S L R L Y D Q H I R p.440
. . . . . . g.147789
GGCAGCCCGTTTAAGCTGAAAGTGATCCGATCCGCTGATGTGTCTCCCACCACAGAAGGC c.1380
G S P F K L K V I R S A D V S P T T E G p.460
. . . . . . g.147849
GTGAAGAGGCGCGTTAAGTCCCCGGGGAGCGGCCACGTCAAGCAGAAAGCTGTGAAAAGA c.1440
V K R R V K S P G S G H V K Q K A V K R p.480
. . . . . . g.147909
CCCGCAAGCATGTACAGCACTGGAAAACGAAAAGAGAATCCCATCGAAGACGATTTGATC c.1500
P A S M Y S T G K R K E N P I E D D L I p.500
. | 07 . . . . . g.167417
TTTCGAGTGG | GTACCAAAGGAAGAAATAAAGGAGAGTTTACAAATCTTCAGGGGGTAGCT c.1560
F R V G | T K G R N K G E F T N L Q G V A p.520
. . . . . | 08 . g.167720
GCATCTACAAATGGAAAGATATTAATTGCAGACAGTAACAACCAATGTGTGCAG | ATATTT c.1620
A S T N G K I L I A D S N N Q C V Q | I F p.540
. . . . . . g.167780
TCCAATGATGGCCAGTTCAAAAGTCGTTTTGGCATACGGGGACGCTCTCCGGGGCAGCTG c.1680
S N D G Q F K S R F G I R G R S P G Q L p.560
. . . . . . g.167840
CAGCGGCCCACAGGAGTGGCTGTACATCCCAGTGGGGACATAATCATTGCCGATTATGAT c.1740
Q R P T G V A V H P S G D I I I A D Y D p.580
. . . . | 09 . . g.174548
AATAAATGGGTCAGCATTTTCTCCTCCGATGGGAAATTTAAG | ACAAAAATTGGATCAGGA c.1800
N K W V S I F S S D G K F K | T K I G S G p.600
. . . . . . g.174608
AAGCTGATGGGACCCAAAGGAGTTTCTGTGGACCGCAATGGGCACATTATTGTTGTGGAC c.1860
K L M G P K G V S V D R N G H I I V V D p.620
. . . . . . g.174668
AACAAGGCGTGCTGCGTGTTTATCTTCCAGCCAAACGGGAAAATAGTCACCAGGTTTGGT c.1920
N K A C C V F I F Q P N G K I V T R F G p.640
. . . | 10 . . . g.175989
AGCCGAGGAAATGGGGACAGGCAGTTTGCAG | GTCCCCATTTTGCAGCTGTAAATAGCAAT c.1980
S R G N G D R Q F A G | P H F A A V N S N p.660
. . . . | 11 . . g.180430
AATGAGATTATTATTACAGATTTCCATAATCATTCTGTCAAG | GTGTTTAATCAGGAAGGA c.2040
N E I I I T D F H N H S V K | V F N Q E G p.680
. . . . . . g.180490
GAATTCATGTTGAAGTTTGGCTCAAATGGAGAAGGAAATGGGCAGTTTAATGCTCCAACA c.2100
E F M L K F G S N G E G N G Q F N A P T p.700
. . . . . . g.180550
GGTGTAGCAGTGGATTCAAATGGAAACATCATTGTGGCCGACTGGGGAAACAGCAGGATC c.2160
G V A V D S N G N I I V A D W G N S R I p.720
| 12 . . . . . . g.186753
CAG | GTTTTTGATGGGAGTGGATCATTTTTGTCCTACATTAACACATCTGCTGACCCACTC c.2220
Q | V F D G S G S F L S Y I N T S A D P L p.740
. . . . . . g.186813
TATGGCCCCCAAGGCCTGGCCCTAACTTCAGATGGTCATGTTGTGGTTGCAGACTCTGGA c.2280
Y G P Q G L A L T S D G H V V V A D S G p.760
. . . g.186849
AATCACTGTTTCAAAGTCTATCGATACTTACAGTAA c.2316
N H C F K V Y R Y L Q X p.771
. . . . . . g.186909
tggtgggcaggtggatacccgcttccatggtcttgcactataaactggaatggatttctc c.*60
. . . . . . g.186969
aatgcgggaccagattatgactagagtttttatgccagaaggaatcattggtgaactttc c.*120
. . . . . . g.187029
caaggttatttctgaatgtaacaatttccttaaaaatgacttatccaatttctgtatttc c.*180
. . . . . . g.187089
acctttagggttaaaaaaaactcttctactgaatctataaaaactgcagttttacatctg c.*240
. . . . . . g.187149
tgaactatggcttaagggacaggatttatgtagctaaactaattttgcaaatcaaacaga c.*300
. . . . . . g.187209
cacttaaaaaactagcatatgtaaaggtattcgttaatcctgtgaatggtagcttttgca c.*360
. . . . . . g.187269
cagaacttccaaaagcaaaacaaaaacaaaatctattgtagttatatacttcatttaacc c.*420
. . . . . . g.187329
taggtcacaagacccagggaatcttctaacctcacttttacagtaggtattactcttgtg c.*480
. . . . . . g.187389
acatttttttggttatcaacaactaaatataaattactttggaaaaagtaaggctgtctt c.*540
. . . . . . g.187449
gcaaaatgatcccagctctgattagcagccctctggagttcagaacttaagtatcagtgc c.*600
. . . . . . g.187509
aaatttctcaacctttctgggttagacaaagatccttttttgtgtgttcttttcaccacc c.*660
. . . . . . g.187569
cctttggctcaccttgtatcagcaaacaaagtacttcttcagggaaacctgaaatttcta c.*720
. . . . . . g.187629
atgccttgaaaagcatattacaaaagtaatgctaccttttgggaaacaaactgccccgtt c.*780
. . . . . . g.187689
aactccagatcattgcactggaatgtaatcaagaaagttagtcatgttttatgtaccatg c.*840
. . . . . . g.187749
ttttcacacgtgtctcttctcttcgacttcctgaaagcgaaagctttacctcctgcaaat c.*900
. . . . . . g.187809
gtcagcacatgtagtaggacaccagtatcctaggacagagagccataagtagccctttgg c.*960
. . . . . . g.187869
aggactgatggtgtcaaccaaaggcatgtgattgattaatgattcccccttagaaagcaa c.*1020
. . . . . . g.187929
gtgttaccaaagttgtgttatcttgaaagcattacaggtaagggcatgttatggttattt c.*1080
. . . . . . g.187989
atcattgtttaatgaatagtagaggtgtcaagggactatgtatacatgattagggtaaga c.*1140
. . . . . . g.188049
tagaatgtattatatatatatatatatacacacacacatatatatagctgaatctttggt c.*1200
. . . . . . g.188109
gtattgaaataggcagcactctgaaagacagaagcttcgtccagccactcttcagcacat c.*1260
. . . . . . g.188169
tcctttactaagcagtttaaagccgtcctagtggagcaagccctaaagcagatttaattt c.*1320
. . . . . . g.188229
ttgccattttccaagaatgacggtggtggcttttagtcagaaaatggccttctgtgcttt c.*1380
. . . . . . g.188289
caaaaaaaaaaacaaaaaaaaaaccacacacacacataaaaaacccaacaggtcaaaata c.*1440
. . . . . . g.188349
aaagttgaacttgagttacatttaatttaaatataaatgcattttgagaaatgttaagaa c.*1500
. . . . . . g.188409
caatttagtcaatcgttcatctgtcattggtactgtaaaataagctgtggtctatttcca c.*1560
. . . . . . g.188469
ctgtttaattttctactcagttctaccaaataggatgtcatgtttgacatttttgatagt c.*1620
. . . . . . g.188529
gactttggggtcttcttcactgaaagcaccttagaactgtactataagaaaacatttccc c.*1680
. . . . . . g.188589
ctatgtataattatatgaatgtgatgtttattgcttattaatttataattcagtcattct c.*1740
. . . . . . g.188649
ctatataggacttcttaaaatttagaagggaaatctagctacttcaaattgtctgttaaa c.*1800
. . . . . . g.188709
tttattatgcccaaatcaacctctgaaaaaaggtttttccaggaagatttacatttaggt c.*1860
. . . . . . g.188769
ttaatatttttttagttaggtagagttttaaaaaatacttgagcctgtccgtgataaagc c.*1920
. . . . . . g.188829
tataaaattcaataactttttagaatgttaaatgaagacactgtttcctaacatcagtga c.*1980
. . . . . . g.188889
gatacatctttgaatttaaacattcatatttactgagtacctactaggtaccaagtactc c.*2040
. . . . . . g.188949
ttttaggcactggaaatacagtgatggacaaaacaggtaaaaaatcgctgccccctcaga c.*2100
. . . . . . g.189009
gctgacattctggggtgggaatttcattttgccacgtactaacgttctgcacaaaagaca c.*2160
. . . . . . g.189069
ggctagactcttgtctagattgtttaaaagaaacttttcaaattggttacattaatttta c.*2220
. . . . . . g.189129
gtttattttcacaagtaaaaatggctttttatttagattctttctgtcccaggctgttga c.*2280
. . . . . . g.189189
tcttaaaactagttgatttaaagagtttttttgcacaacatttcaattatatttgtgaac c.*2340
. . . . . . g.189249
ttagaaattaacttacaatctaaccagccatcatatcatatcctatcaggctagatatct c.*2400
. . . . . . g.189309
caatagtagactgaatacaaagctaattttttttacatgtcaatattggcacaaactgga c.*2460
. . . . . . g.189369
atgaaagaatagtttgattcagacctgctccactatgtgttgctaaaacacatgctatga c.*2520
. . . . . . g.189429
gcactccaggaaacactatattttttccaaaaaatatgtgattatatatgttaaagtata c.*2580
. . . . . . g.189489
gataacatttcacacttggatacatatgtgcatttactgtatttcttggtaagcatattt c.*2640
. . . . . . g.189549
ttgggggaaagtgctgctgatatgatacaagtagacaaaatttaaatgaaattttgtcac c.*2700
. . . . . . g.189609
attctatggaaaatggtttctggtaaactgagaaggatattaaaataagtggcttttttc c.*2760
. . . . . . g.189669
tgggctaccattattgtttgatttctctttgtcaagtgtatagaacctgtcatacattca c.*2820
. . . . . . g.189729
tgataagtagcactgaaaaattactcattcaaatttcccctgggcacgtaaggcaaaata c.*2880
. . . . . . g.189789
ttgccggttgggatttcaaggtcagtgacgacgcatttcctcccagtacagaccccccag c.*2940
. . . . . . g.189849
ccccccttgctggacatggggaggcagagagtcacttgaccatccagaaatacatgacta c.*3000
. . . . . . g.189909
caagtcctttatgactgtttgccattttttttaatggtacttagtattttgatcaaactt c.*3060
. . . . . . g.189969
tagtctccagaactaaacaagtccctaagtttccttattttaatttactgtgactagatt c.*3120
. . . . . . g.190029
tgaagcaaataaatactccagatccatgcagctagaacacacttgcttccactactaaat c.*3180
. . . . . . g.190089
atacagggtatgtcctaacatggagttaactggaatagcagtacactagcaagtatctgt c.*3240
. . . . . . g.190149
gaatccttagcactgacgggttaacagaaatgctttggtaatacctacttagttaattgg c.*3300
. . . . . . g.190209
aggaagtagtaaataaacattaggtaatctgcagattacttcaaatgggaaaaatctttt c.*3360
. . . . . . g.190269
tgtagactctatagtaccctctctattcactagcttctgaaaagggaggagtatttttag c.*3420
. . . . . . g.190329
tttgacaatttaataatttaaaaacaagacatctccaggtaggaaaaaatgaaagctatt c.*3480
. . . . . . g.190389
tcatgcaaacattatctaatttagcttaaaagtgaaagtggtaatactgttggtttctgt c.*3540
. . . . . . g.190449
aaatgttgcagggttttaaactttataattactttaatatttttgataactagaaatcta c.*3600
. . . . . . g.190509
gtattgccataaaggaaactaagtgcccatcaaagatttgtttggtataaataaagaatt c.*3660
. . . . . . g.190569
atttgttttgttttcaatgacagtaagctacaaatcatgatgcttaaaaactttctaaag c.*3720
. . . . . . g.190629
atgaattgtgtggcagtgattggtctgtttgtggagaatgtatgaaagctattaatattc c.*3780
. . . . . . g.190689
tagaatagattaataaattggctatgttgttccaatgaatgtacagcacttccattaact c.*3840
. . . . . . g.190749
tttgaaagcaacacagccttaaactcaatgcttttgctttatgacatgggaatgttctgt c.*3900
. . . . . . g.190809
catcaatggagtgtattcttgtaatagaattctttatatcgttctcaattctatagactt c.*3960
. . . . . . g.190869
tcaagcctatgtatgaatatgaaggggttttttttttttgctttgttttctttttagatt c.*4020
. . . . . . g.190929
ttgtacattccatctttataggtctgtttcatatgttttatgtatagaacactaagtctt c.*4080
. . . . . . g.190989
gcactctctgacattgatactgatatattctcgtcatttgttcttttatgaatcaaaatg c.*4140
. . . . . . g.191049
ttgactgcctatttaaagaaaagaatgaacgctgtgcatcaaagtgtttgtatgttcgta c.*4200
. . . . . . g.191109
gctacatacgtaccacagtattttggatgctttagtctacaatgaaactttcaattaatt c.*4260
. . . . . . g.191169
ctgtcttgaaacataggagaaacaggattcatgtgtatctctttaccatgcacaaaatct c.*4320
. . . g.191205
caaatcattataataaagcttgttttctccatttgc c.*4356
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 27
©2004-2022 Leiden University Medical Center