Canonical Allele Identifier: CA2662317820

Gene: COL5A2

Linked Data

• gnomAD v4: 2-189050749-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050749G>A , CM000664.2:g.189050749G>A	GRCh38
NC_000002.11:g.189915475G>A , CM000664.1:g.189915475G>A	GRCh37
NC_000002.10:g.189623720G>A	NCBI36
NG_011799.1:g.134131C>T
NG_011799.2:g.134131C>T
NG_011799.3:g.179553C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2932-73C>T MANE Select	ENSP00000364000.3:n.2932-73C>T
ENST00000374866.7:c.2932-73C>T	ENSP00000364000.3:n.2932-73C>T
ENST00000618828.1:c.1771-73C>T	ENSP00000482184.1:n.1771-73C>T
NM_000393.3:c.2932-73C>T	NP_000384.2:n.2932-73C>T
XM_011510573.1:c.2794-73C>T	XP_011508875.1:n.2794-73C>T
NM_000393.4:c.2932-73C>T	NP_000384.2:n.2932-73C>T
XM_011510573.3:c.2794-73C>T	XP_011508875.1:n.2794-73C>T
NM_000393.5:c.2932-73C>T MANE Select	NP_000384.2:n.2932-73C>T