Canonical Allele Identifier: CA2021790

Gene: COL5A2

Linked Data

• ClinVar Variation Id: 237777
• ClinVar RCV Id: RCV000232540 ; RCV002229797 ; RCV001582766
• dbSNP Id: rs372170366
• ExAC: 2:189898934 A / T
• gnomAD v2: 2-189898934-A-T
• gnomAD v3: 2-189034208-A-T
• gnomAD v4: 2-189034208-A-T
• MyVariant Identifiers: chr2:g.189898934A>T (hg19) ; chr2:g.189034208A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189034208A>T , CM000664.2:g.189034208A>T	GRCh38
NC_000002.11:g.189898934A>T , CM000664.1:g.189898934A>T	GRCh37
NC_000002.10:g.189607179A>T	NCBI36
NG_011799.1:g.150672T>A
NG_011799.2:g.150672T>A
NG_011799.3:g.196094T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.4362T>A MANE Select	ENSP00000364000.3:p.Asn1454Lys
ENST00000374866.7:c.4362T>A	ENSP00000364000.3:p.Asn1454Lys
ENST00000618828.1:c.3201T>A	ENSP00000482184.1:p.Asn1067Lys
NM_000393.3:c.4362T>A	NP_000384.2:p.Asn1454Lys
XM_011510573.1:c.4224T>A	XP_011508875.1:p.Asn1408Lys
NM_000393.4:c.4362T>A	NP_000384.2:p.Asn1454Lys
XM_011510573.3:c.4224T>A	XP_011508875.1:p.Asn1408Lys
NM_000393.5:c.4362T>A MANE Select	NP_000384.2:p.Asn1454Lys