Canonical Allele Identifier: CA2021908

Gene: COL5A2

Linked Data

• ClinVar Variation Id: 519679
• ClinVar RCV Id: RCV002233027 ; RCV002314283 ; RCV003144398
• dbSNP Id: rs747653593
• ExAC: 2:189904075 C / T
• gnomAD v2: 2-189904075-C-T
• gnomAD v3: 2-189039349-C-T
• gnomAD v4: 2-189039349-C-T
• COSMIC: COSM1306220
• MyVariant Identifiers: chr2:g.189904075C>T (hg19) ; chr2:g.189039349C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189039349C>T , CM000664.2:g.189039349C>T	GRCh38
NC_000002.11:g.189904075C>T , CM000664.1:g.189904075C>T	GRCh37
NC_000002.10:g.189612320C>T	NCBI36
NG_011799.1:g.145531G>A
NG_011799.2:g.145531G>A
NG_011799.3:g.190953G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3848G>A MANE Select	ENSP00000364000.3:p.Arg1283His
ENST00000374866.7:c.3848G>A	ENSP00000364000.3:p.Arg1283His
ENST00000618828.1:c.2687G>A	ENSP00000482184.1:p.Arg896His
NM_000393.3:c.3848G>A	NP_000384.2:p.Arg1283His
XM_011510573.1:c.3710G>A	XP_011508875.1:p.Arg1237His
NM_000393.4:c.3848G>A	NP_000384.2:p.Arg1283His
XM_011510573.3:c.3710G>A	XP_011508875.1:p.Arg1237His
NM_000393.5:c.3848G>A MANE Select	NP_000384.2:p.Arg1283His