Canonical Allele Identifier: CA2662317857

Gene: COL5A2

Linked Data

• gnomAD v4: 2-189050801-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050801A>C , CM000664.2:g.189050801A>C	GRCh38
NC_000002.11:g.189915527A>C , CM000664.1:g.189915527A>C	GRCh37
NC_000002.10:g.189623772A>C	NCBI36
NG_011799.1:g.134079T>G
NG_011799.2:g.134079T>G
NG_011799.3:g.179501T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2932-125T>G MANE Select	ENSP00000364000.3:n.2932-125T>G
ENST00000374866.7:c.2932-125T>G	ENSP00000364000.3:n.2932-125T>G
ENST00000618828.1:c.1771-125T>G	ENSP00000482184.1:n.1771-125T>G
NM_000393.3:c.2932-125T>G	NP_000384.2:n.2932-125T>G
XM_011510573.1:c.2794-125T>G	XP_011508875.1:n.2794-125T>G
NM_000393.4:c.2932-125T>G	NP_000384.2:n.2932-125T>G
XM_011510573.3:c.2794-125T>G	XP_011508875.1:n.2794-125T>G
NM_000393.5:c.2932-125T>G MANE Select	NP_000384.2:n.2932-125T>G