Canonical Allele Identifier: CA349855204

Gene: COL5A2

Linked Data

• ClinVar Variation Id: 958867
• ClinVar RCV Id: RCV002241596
• dbSNP Id: rs1424971937
• gnomAD v4: 2-189035108-C-T
• MyVariant Identifiers: chr2:g.189899834C>T (hg19) ; chr2:g.189035108C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189035108C>T , CM000664.2:g.189035108C>T	GRCh38
NC_000002.11:g.189899834C>T , CM000664.1:g.189899834C>T	GRCh37
NC_000002.10:g.189608079C>T	NCBI36
NG_011799.1:g.149772G>A
NG_011799.2:g.149772G>A
NG_011799.3:g.195194G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.4161G>A MANE Select	ENSP00000364000.3:p.Met1387Ile
ENST00000374866.7:c.4161G>A	ENSP00000364000.3:p.Met1387Ile
ENST00000618828.1:c.3000G>A	ENSP00000482184.1:p.Met1000Ile
NM_000393.3:c.4161G>A	NP_000384.2:p.Met1387Ile
XM_011510573.1:c.4023G>A	XP_011508875.1:p.Met1341Ile
NM_000393.4:c.4161G>A	NP_000384.2:p.Met1387Ile
XM_011510573.3:c.4023G>A	XP_011508875.1:p.Met1341Ile
NM_000393.5:c.4161G>A MANE Select	NP_000384.2:p.Met1387Ile