(used for variant description)
(last modified October 4, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_006341.3 in the MAD2L2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering MAD2L2 transcript NM_006341.3.
(upstream sequence)
g.15415
ccgtgcgg c.-181
. . . . . . g.15475
gaatgggcgtggcctgggcggggcgggcgctaggacccaccggagcgccgtgaacgtcac c.-121
. . . . . . g.15535
cgagcggcgccgaggccccgggttgagcgggaggcgcgatcggtccggtcggtggctccc c.-61
. . . . . | 02. g.16020
cgcggcggggccgggcccgatctcgggcgggaaccgagcgcagagccg | gtagcgggaagg c.-1
. . . . | 03 . . g.16170
ATGACCACGCTCACACGACAAGACCTCAACTTTGGCCAAG | TGGTGGCCGATGTGCTCTGC c.60
M T T L T R Q D L N F G Q V | V A D V L C p.20
. . . . . . g.16230
GAGTTCCTGGAGGTGGCTGTGCATCTCATCCTCTACGTGCGCGAGGTCTACCCCGTGGGC c.120
E F L E V A V H L I L Y V R E V Y P V G p.40
. . . | 04 . . g.19028
ATCTTCCAGAAACGCAAGAAGTACAACGTGCCGGTCCAG | ATGTCCTGCCACCCGGAGCTG c.180
I F Q K R K K Y N V P V Q | M S C H P E L p.60
. . . . . | 05 . g.19682
AATCAGTATATCCAGGACACGCTGCACTGCGTCAAGCCACTCCTGGAGAAG | AATGATGTG c.240
N Q Y I Q D T L H C V K P L L E K | N D V p.80
. . . . . . g.19742
GAGAAAGTGGTGGTGGTGATTTTGGATAAAGAGCACCGCCCAGTGGAGAAATTCGTCTTT c.300
E K V V V V I L D K E H R P V E K F V F p.100
. . . | 06 . . . g.20509
GAGATCACCCAGCCTCCACTGCTGTCCATCAG | CTCAGACTCGCTGTTGTCTCATGTGGAG c.360
E I T Q P P L L S I S | S D S L L S H V E p.120
. . . . . . g.20569
CAGCTGCTCCGGGCCTTCATCCTGAAGATCAGCGTGTGCGATGCCGTCCTGGACCACAAC c.420
Q L L R A F I L K I S V C D A V L D H N p.140
| 07. . . . . . g.20943
CCCCCAG | GCTGTACCTTCACAGTCCTGGTGCACACGAGAGAAGCCGCCACTCGCAACATG c.480
P P G | C T F T V L V H T R E A A T R N M p.160
. . | 08 . . . . g.21486
GAGAAGATCCAGGTCATCAAG | GATTTCCCCTGGATCCTGGCGGATGAGCAGGATGTCCAC c.540
E K I Q V I K | D F P W I L A D E Q D V H p.180
. . . . . | 09 . g.21811
ATGCATGACCCCCGGCTGATACCACTAAAAACCATGACGTCGGACATTTTAAAG | ATGCAG c.600
M H D P R L I P L K T M T S D I L K | M Q p.200
. . . g.21847
CTTTACGTGGAAGAGCGCGCTCATAAAGGCAGCTGA c.636
L Y V E E R A H K G S X p.211
. . . . . . g.21907
gggggcacctgccaccccactgatgcccaaactgtcagactttgggggatccccgcctag c.*60
. . . . . . g.21967
ggcagtgctgcatggctgccctgattccaagtgctcttatcgcctctgtgtgtggatcgc c.*120
. . . . . . g.22027
ccgccccagcccggggccgctcaggtctgcttggaggatgcctcccccaggagggcagtg c.*180
. . . . . . g.22087
agggatgccgcaacctcgacttctcagcctcctggggttccgccggccaacactgtctgt c.*240
. . . . . g.22142
ctcaaatactgtgctgtgagttgtttcaataaaggggccccaagggctgggctga c.*295
(downstream sequence)
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