Canonical Allele Identifier: CA2022138

Gene: COL5A2

Linked Data

• dbSNP Id: rs374721412
• ExAC: 2:189915323 C / T
• gnomAD v2: 2-189915323-C-T
• gnomAD v3: 2-189050597-C-T
• gnomAD v4: 2-189050597-C-T
• MyVariant Identifiers: chr2:g.189915323C>T (hg19) ; chr2:g.189050597C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050597C>T , CM000664.2:g.189050597C>T	GRCh38
NC_000002.11:g.189915323C>T , CM000664.1:g.189915323C>T	GRCh37
NC_000002.10:g.189623568C>T	NCBI36
NG_011799.1:g.134283G>A
NG_011799.2:g.134283G>A
NG_011799.3:g.179705G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3011G>A MANE Select	ENSP00000364000.3:p.Arg1004Lys
ENST00000374866.7:c.3011G>A	ENSP00000364000.3:p.Arg1004Lys
ENST00000618828.1:c.1850G>A	ENSP00000482184.1:p.Arg617Lys
NM_000393.3:c.3011G>A	NP_000384.2:p.Arg1004Lys
XM_011510573.1:c.2873G>A	XP_011508875.1:p.Arg958Lys
NM_000393.4:c.3011G>A	NP_000384.2:p.Arg1004Lys
XM_011510573.3:c.2873G>A	XP_011508875.1:p.Arg958Lys
NM_000393.5:c.3011G>A MANE Select	NP_000384.2:p.Arg1004Lys