Canonical Allele Identifier: CA2021783

Gene: COL5A2

Linked Data

• ClinVar Variation Id: 377738
• ClinVar RCV Id: RCV002229998 ; RCV001705562 ; RCV002314141
• dbSNP Id: rs142857608
• ExAC: 2:189898853 A / G
• gnomAD v2: 2-189898853-A-G
• gnomAD v3: 2-189034127-A-G
• gnomAD v4: 2-189034127-A-G
• MyVariant Identifiers: chr2:g.189898853A>G (hg19) ; chr2:g.189034127A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189034127A>G , CM000664.2:g.189034127A>G	GRCh38
NC_000002.11:g.189898853A>G , CM000664.1:g.189898853A>G	GRCh37
NC_000002.10:g.189607098A>G	NCBI36
NG_011799.1:g.150753T>C
NG_011799.2:g.150753T>C
NG_011799.3:g.196175T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.4443T>C MANE Select	ENSP00000364000.3:p.Asp1481=
ENST00000374866.7:c.4443T>C	ENSP00000364000.3:p.Asp1481=
ENST00000618828.1:c.3282T>C	ENSP00000482184.1:p.Asp1094=
NM_000393.3:c.4443T>C	NP_000384.2:p.Asp1481=
XM_011510573.1:c.4305T>C	XP_011508875.1:p.Asp1435=
NM_000393.4:c.4443T>C	NP_000384.2:p.Asp1481=
XM_011510573.3:c.4305T>C	XP_011508875.1:p.Asp1435=
NM_000393.5:c.4443T>C MANE Select	NP_000384.2:p.Asp1481=