Canonical Allele Identifier: CA349879045
Gene: COL5A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189062894C>A , CM000664.2:g.189062894C>A GRCh38
NC_000002.11:g.189927620C>A , CM000664.1:g.189927620C>A GRCh37
NC_000002.10:g.189635865C>A NCBI36
NG_011799.1:g.121986G>T
NG_011799.2:g.121986G>T
NG_011799.3:g.167408G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.1948G>T MANE Select ENSP00000364000.3:p.Val650Phe
ENST00000374866.7:c.1948G>T ENSP00000364000.3:p.Val650Phe
ENST00000470524.2:n.54G>T
ENST00000618828.1:c.787G>T ENSP00000482184.1:p.Val263Phe
NM_000393.3:c.1948G>T NP_000384.2:p.Val650Phe
XM_011510573.1:c.1810G>T XP_011508875.1:p.Val604Phe
NM_000393.4:c.1948G>T NP_000384.2:p.Val650Phe
XM_011510573.3:c.1810G>T XP_011508875.1:p.Val604Phe
NM_000393.5:c.1948G>T MANE Select NP_000384.2:p.Val650Phe