Canonical Allele Identifier: CA430322216

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189915379T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050653T>G , CM000664.2:g.189050653T>G	GRCh38
NC_000002.11:g.189915379T>G , CM000664.1:g.189915379T>G	GRCh37
NC_000002.10:g.189623624T>G	NCBI36
NG_011799.1:g.134227A>C
NG_011799.2:g.134227A>C
NG_011799.3:g.179649A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374866.9:c.2955A>C MANE Select	ENSP00000364000.3:p.Pro985=
ENST00000374866.7:c.2955A>C	ENSP00000364000.3:p.Pro985=
ENST00000618828.1:c.1794A>C	ENSP00000482184.1:p.Pro598=
NM_000393.3:c.2955A>C	NP_000384.2:p.Pro985=
XM_011510573.1:c.2817A>C	XP_011508875.1:p.Pro939=
NM_000393.4:c.2955A>C	NP_000384.2:p.Pro985=
XM_011510573.3:c.2817A>C	XP_011508875.1:p.Pro939=
NM_000393.5:c.2955A>C MANE Select	NP_000384.2:p.Pro985=