Canonical Allele Identifier: CA349866877

Gene: COL5A2

Linked Data

• gnomAD v4: 2-189050590-C-A
• MyVariant Identifiers: chr2:g.189915316C>A (hg19) ; chr2:g.189050590C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050590C>A , CM000664.2:g.189050590C>A	GRCh38
NC_000002.11:g.189915316C>A , CM000664.1:g.189915316C>A	GRCh37
NC_000002.10:g.189623561C>A	NCBI36
NG_011799.1:g.134290G>T
NG_011799.2:g.134290G>T
NG_011799.3:g.179712G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3018G>T MANE Select	ENSP00000364000.3:p.Met1006Ile
ENST00000374866.7:c.3018G>T	ENSP00000364000.3:p.Met1006Ile
ENST00000618828.1:c.1857G>T	ENSP00000482184.1:p.Met619Ile
NM_000393.3:c.3018G>T	NP_000384.2:p.Met1006Ile
XM_011510573.1:c.2880G>T	XP_011508875.1:p.Met960Ile
NM_000393.4:c.3018G>T	NP_000384.2:p.Met1006Ile
XM_011510573.3:c.2880G>T	XP_011508875.1:p.Met960Ile
NM_000393.5:c.3018G>T MANE Select	NP_000384.2:p.Met1006Ile