Canonical Allele Identifier: CA2022509

Gene: COL5A2

Linked Data

• dbSNP Id: rs770204693
• ExAC: 2:189927604 G / C
• gnomAD v2: 2-189927604-G-C
• gnomAD v4: 2-189062878-G-C
• MyVariant Identifiers: chr2:g.189927604G>C (hg19) ; chr2:g.189062878G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189062878G>C , CM000664.2:g.189062878G>C	GRCh38
NC_000002.11:g.189927604G>C , CM000664.1:g.189927604G>C	GRCh37
NC_000002.10:g.189635849G>C	NCBI36
NG_011799.1:g.122002C>G
NG_011799.2:g.122002C>G
NG_011799.3:g.167424C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.1964C>G MANE Select	ENSP00000364000.3:p.Pro655Arg
ENST00000374866.7:c.1964C>G	ENSP00000364000.3:p.Pro655Arg
ENST00000470524.2:n.70C>G
ENST00000618828.1:c.803C>G	ENSP00000482184.1:p.Pro268Arg
NM_000393.3:c.1964C>G	NP_000384.2:p.Pro655Arg
XM_011510573.1:c.1826C>G	XP_011508875.1:p.Pro609Arg
NM_000393.4:c.1964C>G	NP_000384.2:p.Pro655Arg
XM_011510573.3:c.1826C>G	XP_011508875.1:p.Pro609Arg
NM_000393.5:c.1964C>G MANE Select	NP_000384.2:p.Pro655Arg