Canonical Allele Identifier: CA2021824

Gene: COL5A2

Linked Data

• dbSNP Id: rs758593384
• ExAC: 2:189899740 G / A
• gnomAD v2: 2-189899740-G-A
• gnomAD v4: 2-189035014-G-A
• MyVariant Identifiers: chr2:g.189899740G>A (hg19) ; chr2:g.189035014G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000374866.9:c.4255C>T MANE Select	ENSP00000364000.3:p.Leu1419Phe
ENST00000374866.7:c.4255C>T	ENSP00000364000.3:p.Leu1419Phe
ENST00000618828.1:c.3094C>T	ENSP00000482184.1:p.Leu1032Phe
NM_000393.3:c.4255C>T	NP_000384.2:p.Leu1419Phe
XM_011510573.1:c.4117C>T	XP_011508875.1:p.Leu1373Phe
NM_000393.4:c.4255C>T	NP_000384.2:p.Leu1419Phe
XM_011510573.3:c.4117C>T	XP_011508875.1:p.Leu1373Phe
NM_000393.5:c.4255C>T MANE Select	NP_000384.2:p.Leu1419Phe