Canonical Allele Identifier: CA349876219

Gene: COL5A2

Linked Data

• gnomAD v4: 2-189058863-G-A
• MyVariant Identifiers: chr2:g.189923589G>A (hg19) ; chr2:g.189058863G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189058863G>A , CM000664.2:g.189058863G>A	GRCh38
NC_000002.11:g.189923589G>A , CM000664.1:g.189923589G>A	GRCh37
NC_000002.10:g.189631834G>A	NCBI36
NG_011799.1:g.126017C>T
NG_011799.2:g.126017C>T
NG_011799.3:g.171439C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2116C>T MANE Select	ENSP00000364000.3:p.Pro706Ser
ENST00000374866.7:c.2116C>T	ENSP00000364000.3:p.Pro706Ser
ENST00000470524.2:n.222C>T
ENST00000618828.1:c.955C>T	ENSP00000482184.1:p.Pro319Ser
NM_000393.3:c.2116C>T	NP_000384.2:p.Pro706Ser
XM_011510573.1:c.1978C>T	XP_011508875.1:p.Pro660Ser
NM_000393.4:c.2116C>T	NP_000384.2:p.Pro706Ser
XM_011510573.3:c.1978C>T	XP_011508875.1:p.Pro660Ser
NM_000393.5:c.2116C>T MANE Select	NP_000384.2:p.Pro706Ser