(used for variant description)
(last modified August 29, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_022132.4 in the MCCC2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008882.1, covering MCCC2 transcript NM_022132.4.
(upstream sequence)
. g.5018
acaggcctgagaatcaga c.-121
. . . . . . g.5078
gaaaccttctctggggctgcaaggacctgagctcagcttccgccccagccagggaagcgg c.-61
. . . . . . g.5138
caggggaaagcaccggctccaggccagcgtgggccgctctctcgctcggtgcccgccgcc c.-1
. . . . . . g.5198
ATGTGGGCCGTCCTGAGGTTAGCCCTGCGGCCGTGTGCCCGCGCCTCTCCCGCCGGGCCG c.60
M W A V L R L A L R P C A R A S P A G P p.20
. . . . . . g.5258
CGCGCCTATCACGGGGACTCGGTGGCCTCGCTGGGCACCCAGCCGGACTTGGGCTCTGCC c.120
R A Y H G D S V A S L G T Q P D L G S A p.40
| 02 . . . . . g.10689
CTCTACCAG | GAGAACTACAAGCAGATGAAAGCACTAGTAAATCAGCTCCATGAACGAGTG c.180
L Y Q | E N Y K Q M K A L V N Q L H E R V p.60
. | 03 . . . . . g.14036
GAGCATATAAAACTAG | GAGGTGGTGAGAAAGCCCGAGCACTTCACATATCAAGAGGAAAA c.240
E H I K L G | G G E K A R A L H I S R G K p.80
. . . . | 04 . . g.17390
CTATTGCCCAGAGAAAGAATTGACAATCTCATAGACCCAGG | GTCTCCATTTCTGGAATTA c.300
L L P R E R I D N L I D P G | S P F L E L p.100
. . . . . . g.17450
TCCCAGTTTGCAGGTTACCAGTTATATGACAATGAGGAGGTGCCAGGAGGTGGCATTATT c.360
S Q F A G Y Q L Y D N E E V P G G G I I p.120
. . | 05 . . . . g.20255
ACAGGCATTGGAAGAGTATCAGG | AGTAGAATGCATGATTATTGCCAATGATGCCACCGTC c.420
T G I G R V S G | V E C M I I A N D A T V p.140
. . . . . . g.20315
AAAGGAGGTGCCTACTACCCAGTGACTGTGAAAAAACAATTACGGGCCCAAGAAATTGCC c.480
K G G A Y Y P V T V K K Q L R A Q E I A p.160
. . . | 06 . . . g.22097
ATGCAAAACAGGCTCCCCTGCATCTACTTAG | TTGATTCGGGAGGAGCATACTTACCTCGA c.540
M Q N R L P C I Y L V | D S G G A Y L P R p.180
. . . . . . g.22157
CAAGCAGATGTGTTTCCAGATCGAGACCACTTTGGCCGTACATTCTATAATCAGGCAATT c.600
Q A D V F P D R D H F G R T F Y N Q A I p.200
. . | 07 . . . . g.44388
ATGTCTTCTAAAAATATTGCACAG | ATCGCAGTGGTCATGGGCTCCTGCACCGCAGGAGGA c.660
M S S K N I A Q | I A V V M G S C T A G G p.220
. . . . . . g.44448
GCCTATGTGCCTGCCATGGCTGATGAAAACATCATTGTACGCAAGCAGGGTACCATTTTC c.720
A Y V P A M A D E N I I V R K Q G T I F p.240
. | 08 . . . . g.49875
TTGGCAGGACCCCCCTTG | GTTAAAGCGGCAACTGGGGAAGAAGTATCTGCTGAGGATCTT c.780
L A G P P L | V K A A T G E E V S A E D L p.260
. . | 09 . . . . g.52692
GGAGGTGCTGATCTTCATTGCAG | AAAGTCTGGAGTAAGTGACCACTGGGCTTTGGATGAT c.840
G G A D L H C R | K S G V S D H W A L D D p.280
. . . . . . g.52752
CATCATGCCCTTCACTTAACTAGGAAGGTTGTGAGGAATCTAAATTATCAGAAGAAATTG c.900
H H A L H L T R K V V R N L N Y Q K K L p.300
| 10 . . . . . . g.52920
GAT | GTCACCATTGAACCTTCTGAAGAGCCTTTATTTCCTGCTGATGAATTGTATGGAATA c.960
D | V T I E P S E E P L F P A D E L Y G I p.320
. . . | 11 . . g.58736
GTTGGTGCTAACCTTAAGAGGAGCTTTGATGTCCGAGAG | GTCATTGCTAGAATCGTGGAT c.1020
V G A N L K R S F D V R E | V I A R I V D p.340
. . . . . | 12 . g.61539
GGAAGCAGATTCACTGAGTTCAAAGCCTTTTATGGAGACACATTAGTTACAG | GATTTGCT c.1080
G S R F T E F K A F Y G D T L V T G | F A p.360
. . . . . . g.61599
CGAATATTTGGGTACCCAGTAGGTATCGTTGGAAACAACGGAGTTCTCTTTTCTGAATCT c.1140
R I F G Y P V G I V G N N G V L F S E S p.380
| 13 . . . . . g.63974
GCAAAAAAG | GGTACTCACTTTGTCCAGTTATGCTGCCAAAGAAATATTCCTCTGCTGTTC c.1200
A K K | G T H F V Q L C C Q R N I P L L F p.400
. | 14 . . . . . g.66853
CTTCAAAACATTACTG | GATTTATGGTTGGTAGAGAGTATGAAGCTGAAGGAATTGCCAAG c.1260
L Q N I T G | F M V G R E Y E A E G I A K p.420
. . . . . . g.66913
GATGGTGCCAAGATGGTGGCCGCTGTGGCCTGTGCCCAAGTGCCTAAGATAACCCTCATC c.1320
D G A K M V A A V A C A Q V P K I T L I p.440
. . . . . | 15 . g.67788
ATTGGGGGCTCCTATGGAGCCGGAAACTATGGGATGTGTGGCAGAGCATATAG | CCCAAGA c.1380
I G G S Y G A G N Y G M C G R A Y S | P R p.460
. . . . . . g.67848
TTTCTCTACATTTGGCCAAATGCTCGTATCTCAGTGATGGGAGGAGAGCAGGCAGCCAAT c.1440
F L Y I W P N A R I S V M G G E Q A A N p.480
. . . . | 16 . g.70393
GTGTTGGCCACGATAACAAAGGACCAAAGAGCCCGGGAAGGAAAGCAG | TTCTCCAGTGCT c.1500
V L A T I T K D Q R A R E G K Q | F S S A p.500
. . . . . . g.70453
GATGAAGCGGCTTTAAAAGAGCCCATCATTAAGAAGTTTGAAGAGGAAGGAAACCCTTAC c.1560
D E A A L K E P I I K K F E E E G N P Y p.520
. | 17 . . . . . g.74501
TATTCCAGCGCAAG | GGTATGGGATGATGGGATCATTGATCCAGCAGACACCAGACTGGTC c.1620
Y S S A R | V W D D G I I D P A D T R L V p.540
. . . . . . g.74561
TTGGGTCTCAGTTTTAGTGCAGCCCTCAACGCACCAATAGAGAAGACTGACTTCGGTATC c.1680
L G L S F S A A L N A P I E K T D F G I p.560
. g.74573
TTCAGGATGTAA c.1692
F R M X p.563
. . . . . . g.74633
ctggaataaaggatgttttctgttggacatgtactgaaaattaacacatgtagtagcctt c.*60
. . . . . . g.74693
aaaattttagacttctcgaacatgaggctgttacagtaatttttttaacactgtgcattg c.*120
. . . . . . g.74753
tacttttctaccttaaaaaaatcagtgaggatatttatttaatgaacatcaattcctttt c.*180
. . . . . . g.74813
aaattttcttagagaaatttctctgtggctcagttttaccacccataaagcggagacagt c.*240
. . . . . . g.74873
aatttacggttatcctttctgacccacaaagtatgaaaagttctgtaatctgtaaactca c.*300
. . . . . . g.74933
gttctgtaatctgtattattgagatgattaatataaagttgtattttcactgaaatgatt c.*360
. . . . . . g.74993
gttttgctggttatgcttggtgatattttagcgggcttatttttgaaaggcatctgttac c.*420
. . . . . . g.75053
ttcagtggcataaagtgccctcacactgctgtgcagccatcaccaccattcatctccaga c.*480
. . . . . . g.75113
atttgttctcagtcccaaactgaaactataccattcaaacaacagcgctccccatttccc c.*540
. . . . . . g.75173
cctcccccgagcccatgacatctccttattattattttttttttgagacagggtgtttct c.*600
. . . . . . g.75233
ctgttgcccaggctggagtgcggtggtgtgatctcggctcactgcagcttccacctcccg c.*660
. . . . . . g.75293
ggttcaagcgattcttgtgcctcagcctcccaagcagctgggactataggcacgcaccac c.*720
. . . . . . g.75353
cacacccagctaagttctgtatttttagcagagacgggatttcactaggttgcccaggct c.*780
. . . . . . g.75413
ggtctcaaactactgacctcaagtgatccacccgcctcggcctcccaaagtgctgggatt c.*840
. . . . . . g.75473
acaggtgtgagccaccgcgcctgaccacatctccttattcttaaatgtatgtgtttctca c.*900
. . . . . . g.75533
tggtttgatttattcttgctgggccatttcagcccctgtcatggcttcactcgccatcta c.*960
. . . . . . g.75593
aatgcagatgattactgccttgacggttcttaacccagctctcccctgagctgcaggcct c.*1020
. . . . . . g.75653
gcatatccagtaggtctactggacatctgtactggttgttgtggaggaacctctggcttg c.*1080
. . . . . . g.75713
ctcattaagtcctactgattttcactatcccctgaatttccccacttatttttgtctttc c.*1140
. . . . . . g.75773
actatcgcaggccttagaagaggtctacctgcctccagtcttacctagtccagtctaccc c.*1200
. . . . . . g.75833
cctggagttagaatggccatcctgaagtgaaaagtaatgtcagattactcccttcagtga c.*1260
. . . . . . g.75893
tttcttgtagaagtgccaatccctgaatgccaccaagatcttaatcttcacatctttaat c.*1320
. . . . . . g.75953
cttatctctttgactcctctttacaccggagaacggctccagctgttctagctctctttc c.*1380
. . . . . . g.76013
agttctttgaaccttcccaccttagggtctataaggttccctctgcccaaattgttctac c.*1440
. . . . . . g.76073
tctcccttcttcttcaacacatccttcagtttaagcacttgcttctctcagtttaaactc c.*1500
. . . . . . g.76133
cacttccttagggatgtctctgtgacctccctgtgctggattagcttccctactctatgc c.*1560
. . . . . . g.76193
tcttgtaaaacactatctacttcctttgtcataaactcatcattttcctataaacattaa c.*1620
. . . . . . g.76253
tattgtcctcctgctagaatgtaagctccgtgagagcaaggatcctcctgtttaccctgt c.*1680
. . . . . . g.76313
acctccaatgtctggcacttgtaggtgctcaaatattcgttgaatgaatgaaaaatccat c.*1740
. . . . . . g.76373
attgtaattgatgtcctctggccacatagttttaaaattaggtgattgattatatgaccg c.*1800
. . . . g.76417
aatagaactatcaaatgttttcctaataaagtcaatatttcaaa c.*1844
(downstream sequence)
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