Canonical Allele Identifier: CA430322034

Gene: COL5A2

Linked Data

• ClinVar Variation Id: 2819609
• ClinVar RCV Id: RCV003760972
• MyVariant Identifiers: chr2:g.189915319G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050593G>A , CM000664.2:g.189050593G>A	GRCh38
NC_000002.11:g.189915319G>A , CM000664.1:g.189915319G>A	GRCh37
NC_000002.10:g.189623564G>A	NCBI36
NG_011799.1:g.134287C>T
NG_011799.2:g.134287C>T
NG_011799.3:g.179709C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3015C>T MANE Select	ENSP00000364000.3:p.Gly1005=
ENST00000374866.7:c.3015C>T	ENSP00000364000.3:p.Gly1005=
ENST00000618828.1:c.1854C>T	ENSP00000482184.1:p.Gly618=
NM_000393.3:c.3015C>T	NP_000384.2:p.Gly1005=
XM_011510573.1:c.2877C>T	XP_011508875.1:p.Gly959=
NM_000393.4:c.3015C>T	NP_000384.2:p.Gly1005=
XM_011510573.3:c.2877C>T	XP_011508875.1:p.Gly959=
NM_000393.5:c.3015C>T MANE Select	NP_000384.2:p.Gly1005=