Canonical Allele Identifier: CA2662318302

Gene: COL5A2

Linked Data

• gnomAD v4: 2-189052853-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189052853T>C , CM000664.2:g.189052853T>C	GRCh38
NC_000002.11:g.189917579T>C , CM000664.1:g.189917579T>C	GRCh37
NC_000002.10:g.189625824T>C	NCBI36
NG_011799.1:g.132027A>G
NG_011799.2:g.132027A>G
NG_011799.3:g.177449A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374866.9:c.2662-51A>G MANE Select	ENSP00000364000.3:n.2662-51A>G
ENST00000374866.7:c.2662-51A>G	ENSP00000364000.3:n.2662-51A>G
ENST00000618828.1:c.1501-51A>G	ENSP00000482184.1:n.1501-51A>G
NM_000393.3:c.2662-51A>G	NP_000384.2:n.2662-51A>G
XM_011510573.1:c.2524-51A>G	XP_011508875.1:n.2524-51A>G
NM_000393.4:c.2662-51A>G	NP_000384.2:n.2662-51A>G
XM_011510573.3:c.2524-51A>G	XP_011508875.1:n.2524-51A>G
NM_000393.5:c.2662-51A>G MANE Select	NP_000384.2:n.2662-51A>G