Canonical Allele Identifier: CA349854988

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189899740G>T (hg19) ; chr2:g.189035014G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189035014G>T , CM000664.2:g.189035014G>T	GRCh38
NC_000002.11:g.189899740G>T , CM000664.1:g.189899740G>T	GRCh37
NC_000002.10:g.189607985G>T	NCBI36
NG_011799.1:g.149866C>A
NG_011799.2:g.149866C>A
NG_011799.3:g.195288C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.4255C>A MANE Select	ENSP00000364000.3:p.Leu1419Ile
ENST00000374866.7:c.4255C>A	ENSP00000364000.3:p.Leu1419Ile
ENST00000618828.1:c.3094C>A	ENSP00000482184.1:p.Leu1032Ile
NM_000393.3:c.4255C>A	NP_000384.2:p.Leu1419Ile
XM_011510573.1:c.4117C>A	XP_011508875.1:p.Leu1373Ile
NM_000393.4:c.4255C>A	NP_000384.2:p.Leu1419Ile
XM_011510573.3:c.4117C>A	XP_011508875.1:p.Leu1373Ile
NM_000393.5:c.4255C>A MANE Select	NP_000384.2:p.Leu1419Ile