Canonical Allele Identifier: CA349871079

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189917675G>T (hg19) ; chr2:g.189052949G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189052949G>T , CM000664.2:g.189052949G>T	GRCh38
NC_000002.11:g.189917675G>T , CM000664.1:g.189917675G>T	GRCh37
NC_000002.10:g.189625920G>T	NCBI36
NG_011799.1:g.131931C>A
NG_011799.2:g.131931C>A
NG_011799.3:g.177353C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374866.9:c.2623C>A MANE Select	ENSP00000364000.3:p.Pro875Thr
ENST00000374866.7:c.2623C>A	ENSP00000364000.3:p.Pro875Thr
ENST00000618828.1:c.1462C>A	ENSP00000482184.1:p.Pro488Thr
NM_000393.3:c.2623C>A	NP_000384.2:p.Pro875Thr
XM_011510573.1:c.2485C>A	XP_011508875.1:p.Pro829Thr
NM_000393.4:c.2623C>A	NP_000384.2:p.Pro875Thr
XM_011510573.3:c.2485C>A	XP_011508875.1:p.Pro829Thr
NM_000393.5:c.2623C>A MANE Select	NP_000384.2:p.Pro875Thr