Canonical Allele Identifier: CA1315425109

Gene: COL5A2

Linked Data

• dbSNP Id: rs1685769976
• gnomAD v4: 2-189050820-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050820T>C , CM000664.2:g.189050820T>C	GRCh38
NC_000002.11:g.189915546T>C , CM000664.1:g.189915546T>C	GRCh37
NC_000002.10:g.189623791T>C	NCBI36
NG_011799.1:g.134060A>G
NG_011799.2:g.134060A>G
NG_011799.3:g.179482A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2932-144A>G MANE Select	ENSP00000364000.3:n.2932-144A>G
ENST00000374866.7:c.2932-144A>G	ENSP00000364000.3:n.2932-144A>G
ENST00000618828.1:c.1771-144A>G	ENSP00000482184.1:n.1771-144A>G
NM_000393.3:c.2932-144A>G	NP_000384.2:n.2932-144A>G
XM_011510573.1:c.2794-144A>G	XP_011508875.1:n.2794-144A>G
NM_000393.4:c.2932-144A>G	NP_000384.2:n.2932-144A>G
XM_011510573.3:c.2794-144A>G	XP_011508875.1:n.2794-144A>G
NM_000393.5:c.2932-144A>G MANE Select	NP_000384.2:n.2932-144A>G