(used for variant description)
(last modified August 22, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_002354.2 in the EPCAM gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012352.2, covering EPCAM transcript NM_002354.2.
(upstream sequence)
. . . . . g.29043
aactgcagcgccggggctgggggaggggagcctactcactcccccaactcccgggcgg c.-301
. . . . . . g.29103
tgactcatcaacgagcaccagcggccagaggtgagcagtcccgggaaggggccgagaggc c.-241
. . . . . . g.29163
ggggccgccaggtcgggcaggtgtgcgctccgccccgccgcgcgcacagagcgctagtcc c.-181
. . . . . . g.29223
ttcggcgagcgagcaccttcgacgcggtccggggaccccctcgtcgctgtcctcccgacg c.-121
. . . . . . g.29283
cggacccgcgtgccccaggcctcgcgctgcccggccggctcctcgtgtcccactcccggc c.-61
. . . . . . g.29343
gcacgccctcccgcgagtcccgggcccctcccgcgcccctcttctcggcgcgcgcgcagc c.-1
. . . . . . g.29403
ATGGCGCCCCCGCAGGTCCTCGCGTTCGGGCTTCTGCTTGCCGCGGCGACGGCGACTTTT c.60
M A P P Q V L A F G L L L A A A T A T F p.20
. | 02 . . . . . g.33344
GCCGCAGCTCAGGAAG | AATGTGTCTGTGAAAACTACAAGCTGGCCGTAAACTGCTTTGTG c.120
A A A Q E E | C V C E N Y K L A V N C F V p.40
. . . . . . g.33404
AATAATAATCGTCAATGCCAGTGTACTTCAGTTGGTGCACAAAATACTGTCATTTGCTCA c.180
N N N R Q C Q C T S V G A Q N T V I C S p.60
| 03 . . . . . . g.33701
AAGC | TGGCTGCCAAATGTTTGGTGATGAAGGCAGAAATGAATGGCTCAAAACTTGGGAGA c.240
K L | A A K C L V M K A E M N G S K L G R p.80
. . . . . . g.33761
AGAGCAAAACCTGAAGGGGCCCTCCAGAACAATGATGGGCTTTATGATCCTGACTGCGAT c.300
R A K P E G A L Q N N D G L Y D P D C D p.100
. . . . . . g.33821
GAGAGCGGGCTCTTTAAGGCCAAGCAGTGCAACGGCACCTCCATGTGCTGGTGTGTGAAC c.360
E S G L F K A K Q C N G T S M C W C V N p.120
. . . . . . g.33881
ACTGCTGGGGTCAGAAGAACAGACAAGGACACTGAAATAACCTGCTCTGAGCGAGTGAGA c.420
T A G V R R T D K D T E I T C S E R V R p.140
| 04 . . . . . . g.35126
ACCTA | CTGGATCATCATTGAACTAAAACACAAAGCAAGAGAAAAACCTTATGATAGTAAA c.480
T Y | W I I I E L K H K A R E K P Y D S K p.160
. | 05 . . . . . g.36900
AGTTTGCGGAC | TGCACTTCAGAAGGAGATCACAACGCGTTATCAACTGGATCCAAAATTT c.540
S L R T | A L Q K E I T T R Y Q L D P K F p.180
. | 06 . . . . . g.38835
ATCACGAGTATTTTG | TATGAGAATAATGTTATCACTATTGATCTGGTTCAAAATTCTTCT c.600
I T S I L | Y E N N V I T I D L V Q N S S p.200
. . . . . | 07. g.39609
CAAAAAACTCAGAATGATGTGGACATAGCTGATGTGGCTTATTATTTTGAAAAAGAT | GTT c.660
Q K T Q N D V D I A D V A Y Y F E K D | V p.220
. . . . . . g.39669
AAAGGTGAATCCTTGTTTCATTCTAAGAAAATGGACCTGACAGTAAATGGGGAACAACTG c.720
K G E S L F H S K K M D L T V N G E Q L p.240
. . . . . . g.39729
GATCTGGATCCTGGTCAAACTTTAATTTATTATGTTGATGAAAAAGCACCTGAATTCTCA c.780
D L D P G Q T L I Y Y V D E K A P E F S p.260
. . . . . . g.39789
ATGCAGGGTCTAAAAGCTGGTGTTATTGCTGTTATTGTGGTTGTGGTGATAGCAGTTGTT c.840
M Q G L K A G V I A V I V V V V I A V V p.280
. | 08 . . . . g.45045
GCTGGAATTGTTGTGCTG | GTTATTTCCAGAAAGAAGAGAATGGCAAAGTATGAGAAGGCT c.900
A G I V V L | V I S R K K R M A K Y E K A p.300
| 09 . . . . g.46466
GAG | ATAAAGGAGATGGGTGAGATGCATAGGGAACTCAATGCATAA c.945
E | I K E M G E M H R E L N A X p.314
. . . . . . g.46526
ctatataatttgaagattatagaagaagggaaatagcaaatggacacaaattacaaatgt c.*60
. . . . . . g.46586
gtgtgcgtgggacgaagacatctttgaaggtcatgagtttgttagtttaacatcatatat c.*120
. . . . . . g.46646
ttgtaatagtgaaacctgtactcaaaatataagcagcttgaaactggctttaccaatctt c.*180
. . . . . . g.46706
gaaatttgaccacaagtgtcttatatatgcagatctaatgtaaaatccagaacttggact c.*240
. . . . . . g.46766
ccatcgttaaaattatttatgtgtaacattcaaatgtgtgcattaaatatgcttccacag c.*300
. . . . . . g.46826
taaaatctgaaaaactgatttgtgattgaaagctgcctttctatttacttgagtcttgta c.*360
. . . . . g.46881
catacatacttttttatgagctatgaaataaaacattttaaactgaatttcttaa c.*415
(downstream sequence)
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