Canonical Allele Identifier: CA2022142

Gene: COL5A2

Linked Data

• ClinVar Variation Id: 697622
• ClinVar RCV Id: RCV002235153 ; RCV002434082
• dbSNP Id: rs757271535
• ExAC: 2:189915367 G / A
• gnomAD v2: 2-189915367-G-A
• gnomAD v3: 2-189050641-G-A
• gnomAD v4: 2-189050641-G-A
• MyVariant Identifiers: chr2:g.189915367G>A (hg19) ; chr2:g.189050641G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050641G>A , CM000664.2:g.189050641G>A	GRCh38
NC_000002.11:g.189915367G>A , CM000664.1:g.189915367G>A	GRCh37
NC_000002.10:g.189623612G>A	NCBI36
NG_011799.1:g.134239C>T
NG_011799.2:g.134239C>T
NG_011799.3:g.179661C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374866.9:c.2967C>T MANE Select	ENSP00000364000.3:p.Thr989=
ENST00000374866.7:c.2967C>T	ENSP00000364000.3:p.Thr989=
ENST00000618828.1:c.1806C>T	ENSP00000482184.1:p.Thr602=
NM_000393.3:c.2967C>T	NP_000384.2:p.Thr989=
XM_011510573.1:c.2829C>T	XP_011508875.1:p.Thr943=
NM_000393.4:c.2967C>T	NP_000384.2:p.Thr989=
XM_011510573.3:c.2829C>T	XP_011508875.1:p.Thr943=
NM_000393.5:c.2967C>T MANE Select	NP_000384.2:p.Thr989=