Canonical Allele Identifier: CA349879088
Gene: COL5A2 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.1942G>A MANE Select ENSP00000364000.3:p.Gly648Ser
ENST00000374866.7:c.1942G>A ENSP00000364000.3:p.Gly648Ser
ENST00000470524.2:n.48G>A
ENST00000618828.1:c.781G>A ENSP00000482184.1:p.Gly261Ser
NM_000393.3:c.1942G>A NP_000384.2:p.Gly648Ser
XM_011510573.1:c.1804G>A XP_011508875.1:p.Gly602Ser
NM_000393.4:c.1942G>A NP_000384.2:p.Gly648Ser
XM_011510573.3:c.1804G>A XP_011508875.1:p.Gly602Ser
NM_000393.5:c.1942G>A MANE Select NP_000384.2:p.Gly648Ser