Canonical Allele Identifier: CA349879049

Gene: COL5A2

Linked Data

• gnomAD v4: 2-189062894-C-T
• MyVariant Identifiers: chr2:g.189927620C>T (hg19) ; chr2:g.189062894C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.1948G>A MANE Select	ENSP00000364000.3:p.Val650Ile
ENST00000374866.7:c.1948G>A	ENSP00000364000.3:p.Val650Ile
ENST00000470524.2:n.54G>A
ENST00000618828.1:c.787G>A	ENSP00000482184.1:p.Val263Ile
NM_000393.3:c.1948G>A	NP_000384.2:p.Val650Ile
XM_011510573.1:c.1810G>A	XP_011508875.1:p.Val604Ile
NM_000393.4:c.1948G>A	NP_000384.2:p.Val650Ile
XM_011510573.3:c.1810G>A	XP_011508875.1:p.Val604Ile
NM_000393.5:c.1948G>A MANE Select	NP_000384.2:p.Val650Ile