Canonical Allele Identifier: CA430321224

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189910592A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189045866A>G , CM000664.2:g.189045866A>G	GRCh38
NC_000002.11:g.189910592A>G , CM000664.1:g.189910592A>G	GRCh37
NC_000002.10:g.189618837A>G	NCBI36
NG_011799.1:g.139014T>C
NG_011799.2:g.139014T>C
NG_011799.3:g.184436T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3243T>C MANE Select	ENSP00000364000.3:p.Ser1081=
ENST00000374866.7:c.3243T>C	ENSP00000364000.3:p.Ser1081=
ENST00000618828.1:c.2082T>C	ENSP00000482184.1:p.Ser694=
NM_000393.3:c.3243T>C	NP_000384.2:p.Ser1081=
XM_011510573.1:c.3105T>C	XP_011508875.1:p.Ser1035=
NM_000393.4:c.3243T>C	NP_000384.2:p.Ser1081=
XM_011510573.3:c.3105T>C	XP_011508875.1:p.Ser1035=
NM_000393.5:c.3243T>C MANE Select	NP_000384.2:p.Ser1081=