Canonical Allele Identifier: CA349866991

Gene: COL5A2

Linked Data

• gnomAD v4: 2-189050610-G-A
• MyVariant Identifiers: chr2:g.189915336G>A (hg19) ; chr2:g.189050610G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050610G>A , CM000664.2:g.189050610G>A	GRCh38
NC_000002.11:g.189915336G>A , CM000664.1:g.189915336G>A	GRCh37
NC_000002.10:g.189623581G>A	NCBI36
NG_011799.1:g.134270C>T
NG_011799.2:g.134270C>T
NG_011799.3:g.179692C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2998C>T MANE Select	ENSP00000364000.3:p.Gln1000Ter
ENST00000374866.7:c.2998C>T	ENSP00000364000.3:p.Gln1000Ter
ENST00000618828.1:c.1837C>T	ENSP00000482184.1:p.Gln613Ter
NM_000393.3:c.2998C>T	NP_000384.2:p.Gln1000Ter
XM_011510573.1:c.2860C>T	XP_011508875.1:p.Gln954Ter
NM_000393.4:c.2998C>T	NP_000384.2:p.Gln1000Ter
XM_011510573.3:c.2860C>T	XP_011508875.1:p.Gln954Ter
NM_000393.5:c.2998C>T MANE Select	NP_000384.2:p.Gln1000Ter