Canonical Allele Identifier: CA426118680

Linked Data

MyVariant Identifiers: chr2:g.47300966C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47073827C>T , CM000664.2:g.47073827C>T GRCh38
NC_000002.11:g.47300966C>T , CM000664.1:g.47300966C>T GRCh37
NC_000002.10:g.47154470C>T NCBI36
NG_034143.1:g.162699C>T
NG_034143.2:g.162699C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000698500.1:n.4314C>T (TTC7A)
ENST00000698503.1:n.2487C>T (TTC7A)
ENST00000319190.11:c.2481C>T (TTC7A) MANE Select ENSP00000316699.5:p.Gly827=
ENST00000651101.1:n.1079C>T (TTC7A)
ENST00000651415.1:n.1272C>T (TTC7A)
ENST00000652236.1:n.1182C>T (TTC7A)
ENST00000652568.1:n.1154C>T (TTC7A)
ENST00000319190.9:c.2481C>T (TTC7A) ENSP00000316699.5:p.Gly827=
ENST00000394850.6:c.2553C>T (TTC7A) ENSP00000378320.2:p.Gly851=
ENST00000409245.5:c.2379C>T (TTC7A) ENSP00000386307.1:p.Gly793=
ENST00000409825.5:c.2429C>T (TTC7A)
ENST00000422269.1:c.787-7690G>A
ENST00000441914.5:c.2322C>T (TTC7A)
ENST00000464527.2:n.399-7690G>A (STPG4)
ENST00000482548.1:n.402-5271G>A (STPG4)
ENST00000484061.5:n.1588C>T (TTC7A)
ENST00000491786.5:n.1885C>T (TTC7A)
ENST00000496939.1:n.416-26908G>A (STPG4)
NM_001288951.1:c.2553C>T (TTC7A) NP_001275880.1:p.Gly851=
NM_001288953.1:c.2379C>T (TTC7A) NP_001275882.1:p.Gly793=
NM_001288955.1:c.1419C>T (TTC7A) NP_001275884.1:p.Gly473=
NM_020458.3:c.2481C>T (TTC7A) NP_065191.2:p.Gly827=
XM_005264439.2:c.2124C>T (TTC7A) XP_005264496.1:p.Gly708=
XM_011532998.1:c.2124C>T (TTC7A) XP_011531300.1:p.Gly708=
XM_011533000.1:c.1701C>T (TTC7A) XP_011531302.1:p.Gly567=
XM_011533001.1:c.1434C>T (TTC7A) XP_011531303.1:p.Gly478=
XM_005264439.4:c.2124C>T (TTC7A) XP_005264496.1:p.Gly708=
XM_011532998.3:c.2124C>T (TTC7A) XP_011531300.1:p.Gly708=
XM_011533000.3:c.1701C>T (TTC7A) XP_011531302.1:p.Gly567=
XM_011533001.3:c.1434C>T (TTC7A) XP_011531303.1:p.Gly478=
XM_017004524.1:c.2364C>T (TTC7A) XP_016860013.1:p.Gly788=
XM_017004525.1:c.2313C>T (TTC7A) XP_016860014.1:p.Gly771=
XM_017004526.1:c.2232C>T (TTC7A) XP_016860015.1:p.Gly744=
XM_024453013.1:c.1446C>T (TTC7A) XP_024308781.1:p.Gly482=
NM_020458.4:c.2481C>T (TTC7A) MANE Select NP_065191.2:p.Gly827=
NM_001288951.2:c.2553C>T (TTC7A) NP_001275880.1:p.Gly851=
NM_001288953.2:c.2379C>T (TTC7A) NP_001275882.1:p.Gly793=
NM_001288955.2:c.1419C>T (TTC7A) NP_001275884.1:p.Gly473=