Canonical Allele Identifier: CA349862921

Gene: COL5A2

Linked Data

• gnomAD v4: 2-189045906-C-A
• MyVariant Identifiers: chr2:g.189910632C>A (hg19) ; chr2:g.189045906C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189045906C>A , CM000664.2:g.189045906C>A	GRCh38
NC_000002.11:g.189910632C>A , CM000664.1:g.189910632C>A	GRCh37
NC_000002.10:g.189618877C>A	NCBI36
NG_011799.1:g.138974G>T
NG_011799.2:g.138974G>T
NG_011799.3:g.184396G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374866.9:c.3203G>T MANE Select	ENSP00000364000.3:p.Gly1068Val
ENST00000374866.7:c.3203G>T	ENSP00000364000.3:p.Gly1068Val
ENST00000618828.1:c.2042G>T	ENSP00000482184.1:p.Gly681Val
NM_000393.3:c.3203G>T	NP_000384.2:p.Gly1068Val
XM_011510573.1:c.3065G>T	XP_011508875.1:p.Gly1022Val
NM_000393.4:c.3203G>T	NP_000384.2:p.Gly1068Val
XM_011510573.3:c.3065G>T	XP_011508875.1:p.Gly1022Val
NM_000393.5:c.3203G>T MANE Select	NP_000384.2:p.Gly1068Val