Canonical Allele Identifier: CA62595040

Gene: COL5A2

Linked Data

• dbSNP Id: rs756259584
• MyVariant Identifiers: chr2:g.189915328T>C (hg19) ; chr2:g.189050602T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050602T>C , CM000664.2:g.189050602T>C	GRCh38
NC_000002.11:g.189915328T>C , CM000664.1:g.189915328T>C	GRCh37
NC_000002.10:g.189623573T>C	NCBI36
NG_011799.1:g.134278A>G
NG_011799.2:g.134278A>G
NG_011799.3:g.179700A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3006A>G MANE Select	ENSP00000364000.3:p.Gly1002=
ENST00000374866.7:c.3006A>G	ENSP00000364000.3:p.Gly1002=
ENST00000618828.1:c.1845A>G	ENSP00000482184.1:p.Gly615=
NM_000393.3:c.3006A>G	NP_000384.2:p.Gly1002=
XM_011510573.1:c.2868A>G	XP_011508875.1:p.Gly956=
NM_000393.4:c.3006A>G	NP_000384.2:p.Gly1002=
XM_011510573.3:c.2868A>G	XP_011508875.1:p.Gly956=
NM_000393.5:c.3006A>G MANE Select	NP_000384.2:p.Gly1002=