Canonical Allele Identifier: CA2022060

Gene: COL5A2

Linked Data

• dbSNP Id: rs765030210
• ExAC: 2:189910606 C / T
• gnomAD v2: 2-189910606-C-T
• gnomAD v4: 2-189045880-C-T
• MyVariant Identifiers: chr2:g.189910606C>T (hg19) ; chr2:g.189045880C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189045880C>T , CM000664.2:g.189045880C>T	GRCh38
NC_000002.11:g.189910606C>T , CM000664.1:g.189910606C>T	GRCh37
NC_000002.10:g.189618851C>T	NCBI36
NG_011799.1:g.139000G>A
NG_011799.2:g.139000G>A
NG_011799.3:g.184422G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3229G>A MANE Select	ENSP00000364000.3:p.Gly1077Ser
ENST00000374866.7:c.3229G>A	ENSP00000364000.3:p.Gly1077Ser
ENST00000618828.1:c.2068G>A	ENSP00000482184.1:p.Gly690Ser
NM_000393.3:c.3229G>A	NP_000384.2:p.Gly1077Ser
XM_011510573.1:c.3091G>A	XP_011508875.1:p.Gly1031Ser
NM_000393.4:c.3229G>A	NP_000384.2:p.Gly1077Ser
XM_011510573.3:c.3091G>A	XP_011508875.1:p.Gly1031Ser
NM_000393.5:c.3229G>A MANE Select	NP_000384.2:p.Gly1077Ser