Canonical Allele Identifier: CA349879085
Gene: COL5A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189062900C>G , CM000664.2:g.189062900C>G GRCh38
NC_000002.11:g.189927626C>G , CM000664.1:g.189927626C>G GRCh37
NC_000002.10:g.189635871C>G NCBI36
NG_011799.1:g.121980G>C
NG_011799.2:g.121980G>C
NG_011799.3:g.167402G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.1942G>C MANE Select ENSP00000364000.3:p.Gly648Arg
ENST00000374866.7:c.1942G>C ENSP00000364000.3:p.Gly648Arg
ENST00000470524.2:n.48G>C
ENST00000618828.1:c.781G>C ENSP00000482184.1:p.Gly261Arg
NM_000393.3:c.1942G>C NP_000384.2:p.Gly648Arg
XM_011510573.1:c.1804G>C XP_011508875.1:p.Gly602Arg
NM_000393.4:c.1942G>C NP_000384.2:p.Gly648Arg
XM_011510573.3:c.1804G>C XP_011508875.1:p.Gly602Arg
NM_000393.5:c.1942G>C MANE Select NP_000384.2:p.Gly648Arg