Canonical Allele Identifier: CA2581782644

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189058675T>G , CM000664.2:g.189058675T>G	GRCh38
NC_000002.11:g.189923401T>G , CM000664.1:g.189923401T>G	GRCh37
NC_000002.10:g.189631646T>G	NCBI36
NG_011799.1:g.126205A>C
NG_011799.2:g.126205A>C
NG_011799.3:g.171627A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2131-148A>C MANE Select	ENSP00000364000.3:n.2131-148A>C
ENST00000374866.7:c.2131-148A>C	ENSP00000364000.3:n.2131-148A>C
ENST00000470524.2:n.237-148A>C
ENST00000618828.1:c.970-148A>C	ENSP00000482184.1:n.970-148A>C
NM_000393.3:c.2131-148A>C	NP_000384.2:n.2131-148A>C
XM_011510573.1:c.1993-148A>C	XP_011508875.1:n.1993-148A>C
NM_000393.4:c.2131-148A>C	NP_000384.2:n.2131-148A>C
XM_011510573.3:c.1993-148A>C	XP_011508875.1:n.1993-148A>C
NM_000393.5:c.2131-148A>C MANE Select	NP_000384.2:n.2131-148A>C