Canonical Allele Identifier: CA2577186390

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050541T>A , CM000664.2:g.189050541T>A	GRCh38
NC_000002.11:g.189915267T>A , CM000664.1:g.189915267T>A	GRCh37
NC_000002.10:g.189623512T>A	NCBI36
NG_011799.1:g.134339A>T
NG_011799.2:g.134339A>T
NG_011799.3:g.179761A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374866.9:c.3039+28A>T MANE Select	ENSP00000364000.3:n.3039+28A>T
ENST00000374866.7:c.3039+28A>T	ENSP00000364000.3:n.3039+28A>T
ENST00000618828.1:c.1878+28A>T	ENSP00000482184.1:n.1878+28A>T
NM_000393.3:c.3039+28A>T	NP_000384.2:n.3039+28A>T
XM_011510573.1:c.2901+28A>T	XP_011508875.1:n.2901+28A>T
NM_000393.4:c.3039+28A>T	NP_000384.2:n.3039+28A>T
XM_011510573.3:c.2901+28A>T	XP_011508875.1:n.2901+28A>T
NM_000393.5:c.3039+28A>T MANE Select	NP_000384.2:n.3039+28A>T