Canonical Allele Identifier: CA2022243

Gene: COL5A2

Linked Data

• dbSNP Id: rs779312526
• ExAC: 2:189917573 G / A
• gnomAD v2: 2-189917573-G-A
• gnomAD v4: 2-189052847-G-A
• MyVariant Identifiers: chr2:g.189917573G>A (hg19) ; chr2:g.189052847G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189052847G>A , CM000664.2:g.189052847G>A	GRCh38
NC_000002.11:g.189917573G>A , CM000664.1:g.189917573G>A	GRCh37
NC_000002.10:g.189625818G>A	NCBI36
NG_011799.1:g.132033C>T
NG_011799.2:g.132033C>T
NG_011799.3:g.177455C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374866.9:c.2662-45C>T MANE Select	ENSP00000364000.3:n.2662-45C>T
ENST00000374866.7:c.2662-45C>T	ENSP00000364000.3:n.2662-45C>T
ENST00000618828.1:c.1501-45C>T	ENSP00000482184.1:n.1501-45C>T
NM_000393.3:c.2662-45C>T	NP_000384.2:n.2662-45C>T
XM_011510573.1:c.2524-45C>T	XP_011508875.1:n.2524-45C>T
NM_000393.4:c.2662-45C>T	NP_000384.2:n.2662-45C>T
XM_011510573.3:c.2524-45C>T	XP_011508875.1:n.2524-45C>T
NM_000393.5:c.2662-45C>T MANE Select	NP_000384.2:n.2662-45C>T