(used for variant description)
(last modified December 28, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_016156.5 in the MTMR2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008333.1, covering MTMR2 transcript NM_016156.5.
(upstream sequence)
. g.5013
agatgtcgcgcgg c.-241
. . . . . . g.5073
ccggacacagccagcacggagagtcgatgccggcgtctgagctgcgcagtggggtcttcc c.-181
. . . . . . g.5133
cgctgcccagcagcctacaggcgcggtgcactctgggggaacatggccgcttccggtctc c.-121
. . . . . . g.5193
cctcccgggccggcgctggcctgactgcggccccggtccgtagcactccgccctccgctt c.-61
. . . . . . g.5253
ctcccgccctgtagccgcgaagactgcttcagcctttccctgtgctgcccctgccgcgcg c.-1
. . . . . . g.5313
ATGGAGAAGAGCTCGAGCTGCGAGAGTCTTGGCTCCCAGCCGGCGGCGGCTCGGCCGCCC c.60
M E K S S S C E S L G S Q P A A A R P P p.20
. . | 02 . . . . g.40986
AGCGTGGACTCCTTGTCCAG | TGCCTCCACTTCTCATTCAGAGAATTCAGTGCATACAAAA c.120
S V D S L S S | A S T S H S E N S V H T K p.40
. . . . . . g.41046
TCAGCTTCTGTTGTATCATCAGATTCCATTTCAACTTCTGCCGACAACTTTTCTCCTGAT c.180
S A S V V S S D S I S T S A D N F S P D p.60
| 03 . . . . . . g.63585
TTGAGG | GTCCTGAGGGAGTCTAACAAGTTAGCAGAAATGGAAGAACCACCCTTGCTTCCA c.240
L R | V L R E S N K L A E M E E P P L L P p.80
. . | 04 . . . . g.66879
GGAGAAAATATTAAAGACATGG | CCAAAGATGTAACTTATATATGTCCATTCACTGGCGCT c.300
G E N I K D M A | K D V T Y I C P F T G A p.100
. . . . . | 05. g.67108
GTACGAGGAACTCTGACTGTCACGAATTATAGGTTATATTTCAAAAGCATGGAACGG | GAT c.360
V R G T L T V T N Y R L Y F K S M E R | D p.120
. . . . . . g.67168
CCCCCATTTGTTTTAGATGCTTCCCTTGGTGTGATAAATAGAGTAGAAAAAATTGGTGGT c.420
P P F V L D A S L G V I N R V E K I G G p.140
. . . . | 06 . g.70587
GCTTCTAGTCGAGGTGAAAATTCTTATGGACTAGAAACTGTGTGTAAG | GATATTAGGAAT c.480
A S S R G E N S Y G L E T V C K | D I R N p.160
. . . . . . g.70647
TTACGATTTGCTCATAAACCTGAGGGGCGGACAAGAAGATCCATATTTGAGAATCTAATG c.540
L R F A H K P E G R T R R S I F E N L M p.180
. . . | 07 . . . g.71602
AAATATGCATTTCCTGTCTCTAATAACCTG | CCTCTTTTTGCTTTTGAATACAAAGAAGTA c.600
K Y A F P V S N N L | P L F A F E Y K E V p.200
. . . . . | 08 . g.78464
TTCCCTGAAAATGGGTGGAAGCTATATGACCCTCTTTTAGAGTATAGAAGGCAG | GGAATT c.660
F P E N G W K L Y D P L L E Y R R Q | G I p.220
. . . . . . g.78524
CCAAATGAAAGCTGGAGAATAACAAAGATAAATGAACGATATGAACTTTGTGATACATAC c.720
P N E S W R I T K I N E R Y E L C D T Y p.240
. . . . . . g.78584
CCTGCCCTCCTGGTTGTGCCAGCAAATATTCCTGATGAAGAATTAAAGAGAGTGGCATCC c.780
P A L L V V P A N I P D E E L K R V A S p.260
. . | 09 . . . . g.79381
TTCAGATCAAGAGGCCGTATCCCA | GTTTTATCATGGATTCATCCTGAAAGTCAAGCCACA c.840
F R S R G R I P | V L S W I H P E S Q A T p.280
. . . . . . g.79441
ATCACTCGGTGTAGCCAGCCCATGGTTGGAGTGAGTGGAAAGCGAAGCAAAGAAGATGAA c.900
I T R C S Q P M V G V S G K R S K E D E p.300
. . . . . . g.79501
AAATACCTTCAAGCTATCATGGATTCCAATGCCCAGTCTCACAAAATCTTTATATTTGAT c.960
K Y L Q A I M D S N A Q S H K I F I F D p.320
. . . | 10 . . . g.81335
GCCCGGCCAAGTGTTAATGCTGTTGCCAACAAG | GCAAAGGGTGGAGGTTATGAAAGTGAA c.1020
A R P S V N A V A N K | A K G G G Y E S E p.340
. . . . . . g.81395
GATGCCTATCAAAATGCTGAACTAGTTTTCCTGGATATCCACAATATTCATGTTATGAGA c.1080
D A Y Q N A E L V F L D I H N I H V M R p.360
. . . . . . g.81455
GAATCATTACGAAAACTTAAGGAGATTGTGTACCCCAACATTGAGGAAACCCACTGGTTG c.1140
E S L R K L K E I V Y P N I E E T H W L p.380
. . . | 11 . . g.84069
TCTAACTTGGAATCTACTCATTGGCTAGAACATATTAAG | CTTATTCTTGCAGGGGCTCTT c.1200
S N L E S T H W L E H I K | L I L A G A L p.400
. . . . . . g.84129
AGGATTGCTGACAAGGTAGAGTCAGGGAAGACGTCTGTGGTAGTGCATTGCAGTGATGGT c.1260
R I A D K V E S G K T S V V V H C S D G p.420
. . . . . . g.84189
TGGGATCGCACAGCTCAGCTCACTTCCCTTGCCATGCTCATGTTGGATGGATACTATCGA c.1320
W D R T A Q L T S L A M L M L D G Y Y R p.440
. . . . . . g.84249
ACCATCCGAGGATTTGAAGTCCTTGTGGAGAAAGAATGGCTAAGTTTTGGACATCGATTT c.1380
T I R G F E V L V E K E W L S F G H R F p.460
| 12 . . . . . . g.87552
CAACTA | AGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTT c.1440
Q L | R V G H G D K N H A D A D R S P V F p.480
. . . | 13 . . g.91021
CTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAG | TTTCCTACCGCATTTGAATTC c.1500
L Q F I D C V W Q M T R Q | F P T A F E F p.500
. . . . . . g.91081
AATGAGTATTTTCTCATTACCATTTTGGACCACCTATACAGCTGCTTATTCGGAACATTC c.1560
N E Y F L I T I L D H L Y S C L F G T F p.520
. . . | 14 . . . g.92910
CTCTGTAATAGTGAACAACAGAGAGGAAAAGAG | AATCTTCCTAAAAGGACTGTGTCACTG c.1620
L C N S E Q Q R G K E | N L P K R T V S L p.540
. . . . . . g.92970
TGGTCTTACATAAACAGCCAGCTGGAAGACTTCACTAATCCTCTCTATGGGAGCTATTCC c.1680
W S Y I N S Q L E D F T N P L Y G S Y S p.560
. . . . . . g.93030
AATCATGTCCTTTATCCAGTAGCCAGCATGCGCCACCTAGAGCTCTGGGTGGGATATTAC c.1740
N H V L Y P V A S M R H L E L W V G Y Y p.580
. . . | 15 . . . g.93786
ATAAGGTGGAATCCACGGATGAAACCACAG | GAACCTATTCACAACAGATACAAAGAACTT c.1800
I R W N P R M K P Q | E P I H N R Y K E L p.600
. . . . . . g.93846
CTTGCTAAACGAGCAGAGCTTCAGAAAAAAGTAGAGGAACTACAGAGAGAGATTTCTAAC c.1860
L A K R A E L Q K K V E E L Q R E I S N p.620
. . . . . . g.93906
CGATCAACCTCATCCTCAGAGAGAGCCAGCTCTCCTGCACAGTGTGTCACTCCTGTCCAA c.1920
R S T S S S E R A S S P A Q C V T P V Q p.640
. g.93918
ACTGTTGTATAA c.1932
T V V X p.643
. . . . . . g.93978
aggactgtaagatcaggggcatcattgctatacactcttgattacactggcagctctatg c.*60
. . . . . . g.94038
agtagaaagtcttcggaatttagaacccatctatgagagaaagttcagtcactttattta c.*120
. . . . . . g.94098
ttttaaatctctctaggatgagtttagaactgtagcagtgcaggtggcttaagtgaagta c.*180
. . . . . . g.94158
actccatatgtaattacatgattatgatactaatcttttaagtatccaaagaatattaaa c.*240
. . . . . . g.94218
atacttcaatcctggattcacagtgggaacaagtttctattaaaaggcaaatgctgttac c.*300
. . . . . . g.94278
aaatttttggcatctggtaatattaaaaccattttagaaatacactctgtgctcactgtg c.*360
. . . . . . g.94338
cagaggaacatcagttttcaaaccaacactgaaattctgtggcatcacatatattgggcc c.*420
. . . . . . g.94398
ttgatgtcatgacagatcaaaatcatttgatatccctttctccattctaggtttttcttt c.*480
. . . . . . g.94458
ttttcagtaactgatttaccttgatcacttttcaacttccatattcttcatatagtaaaa c.*540
. . . . . . g.94518
ggcaaagtgttgaagatactacggtgtggtagtagttgaaaattattgccgtcattattt c.*600
. . . . . . g.94578
acatacttaagacatattagcaagttgatccaaaatgggaggccttatagatgtgcttgg c.*660
. . . . . . g.94638
gggaaaatgaaggggagaaagtagccatacaggagttcaaagaattccatgcccttcaga c.*720
. . . . . . g.94698
ttagcccaattaccagaaacatcatgaaagatattttaaaaactaattatttactacagt c.*780
. . . . . . g.94758
gtatttcacttgtcttgtgtgtctgaacacacagaagctaattagcaagtttttaagaag c.*840
. . . . . . g.94818
tatttaaaaatcttactaggattgacattttttctgaattctgtataaatagcttatagt c.*900
. . . . . . g.94878
gagaagtactgtgctcaaattttacatttttttcctttgcaaattctgtaatttcactca c.*960
. . . . . . g.94938
acgattaagtctaccaaagaacacactgcatgtaaaagatgtattacaatctcaaagcca c.*1020
. . . . . . g.94998
gtaaaagaaatcttgcttcactgttcacctgctacaagtaagagtttggtgctggtagaa c.*1080
. . . . . . g.95058
acatttgactctgatgtctattttattctacataagagccatatgtaatgtactgtaaca c.*1140
. . . . . . g.95118
aaggagcttcttgtccccttggtcttttaattaaaagaaattccaactgacttttaaact c.*1200
. . . . . . g.95178
ttgttcttgtccaaagttgccatttcttttttttccccagaaatatttggaaattattgg c.*1260
. . . . . . g.95238
aggaatatgcaccccagatgaaaatgttcagtttgtacccatttttccttaaccaacacc c.*1320
. . . . . . g.95298
caaatcaaacaattaaaatatacagtgtttttccactcactaattcactatacagagagt c.*1380
. . . . . . g.95358
ctgaaccttagcctccctcttggtcttgcagtgaggaagtttctattagtatatccaatt c.*1440
. . . . . . g.95418
tagcaaaattggtaccaaaatgatttctttggtaattgtgtgaaatataagctttttaac c.*1500
. . . . . . g.95478
agggcatttaagtggctagcaaatcagtaattaaaaattaagctttctactccaagtatt c.*1560
. . . . . . g.95538
tcacaaacgcatctgccattttcctcatttaaaccttggttatcttggcctgataccaca c.*1620
. . . . . . g.95598
taaaagaatgtagaatggctgaagagatcaagaatttaaagcttctagtcttaacatact c.*1680
. . . . . . g.95658
tgcatccacttcaaattcaaatcaaaagccagggaaatctaagtgcaaccctaccacttc c.*1740
. . . . . . g.95718
tctgctgagaaccttccagtggttcccctcaccttctgcagaagtctccaatatggagta c.*1800
. . . . . . g.95778
catgcacttgggcatttaatatataccactggtgtgtgtgggagggagggaggaggaata c.*1860
. . . . . . g.95838
ctagccctttttatatatttacacaagcaaaacttttaaatatttgaattgacagttaca c.*1920
. . . . . . g.95898
tgtttcataactttgtatgtctattggttgtgcaggtgtaattttttccctttttgatta c.*1980
. . . . . . g.95958
gggttacaaaatttagagaccagtatgattaagttgaagctccttagcctccttcgacct c.*2040
. . . . . . g.96018
agtctctgcatacctcaacttttacgtaccaatgctactctgctgttcacaattgcctca c.*2100
. . . . . . g.96078
tgtaatctgcagattcctgcctccccactttggttcagtctgtcttgtgcacctggaaca c.*2160
. . . . . . g.96138
actgttctcccttgtgactaattcctattttctagagtttaggcatcatctcttcctttg c.*2220
. . . . . . g.96198
ggaagttatctgattcacgactgccttctctgacatccccaccttcctctgtgcccccat c.*2280
. . . . . . g.96258
agcactgtgtataccgctactaccactgcaattcacattatattggaatgaacaattcac c.*2340
. . . . . . g.96318
atgtctaccacaagtctgtaaacataaccttatttgaaatgaattgcaataaagctctgt c.*2400
. g.96328
tacaacgtaa c.*2410
(downstream sequence)
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