Canonical Allele Identifier: CA430442479

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189899840A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189035114A>C , CM000664.2:g.189035114A>C	GRCh38
NC_000002.11:g.189899840A>C , CM000664.1:g.189899840A>C	GRCh37
NC_000002.10:g.189608085A>C	NCBI36
NG_011799.1:g.149766T>G
NG_011799.2:g.149766T>G
NG_011799.3:g.195188T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374866.9:c.4155T>G MANE Select	ENSP00000364000.3:p.Thr1385=
ENST00000374866.7:c.4155T>G	ENSP00000364000.3:p.Thr1385=
ENST00000618828.1:c.2994T>G	ENSP00000482184.1:p.Thr998=
NM_000393.3:c.4155T>G	NP_000384.2:p.Thr1385=
XM_011510573.1:c.4017T>G	XP_011508875.1:p.Thr1339=
NM_000393.4:c.4155T>G	NP_000384.2:p.Thr1385=
XM_011510573.3:c.4017T>G	XP_011508875.1:p.Thr1339=
NM_000393.5:c.4155T>G MANE Select	NP_000384.2:p.Thr1385=