Canonical Allele Identifier: CA349867025

Gene: COL5A2

Linked Data

• dbSNP Id: rs1307247762
• gnomAD v2: 2-189915343-C-T
• gnomAD v3: 2-189050617-C-T
• gnomAD v4: 2-189050617-C-T
• MyVariant Identifiers: chr2:g.189915343C>T (hg19) ; chr2:g.189050617C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050617C>T , CM000664.2:g.189050617C>T	GRCh38
NC_000002.11:g.189915343C>T , CM000664.1:g.189915343C>T	GRCh37
NC_000002.10:g.189623588C>T	NCBI36
NG_011799.1:g.134263G>A
NG_011799.2:g.134263G>A
NG_011799.3:g.179685G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2991G>A MANE Select	ENSP00000364000.3:p.Met997Ile
ENST00000374866.7:c.2991G>A	ENSP00000364000.3:p.Met997Ile
ENST00000618828.1:c.1830G>A	ENSP00000482184.1:p.Met610Ile
NM_000393.3:c.2991G>A	NP_000384.2:p.Met997Ile
XM_011510573.1:c.2853G>A	XP_011508875.1:p.Met951Ile
NM_000393.4:c.2991G>A	NP_000384.2:p.Met997Ile
XM_011510573.3:c.2853G>A	XP_011508875.1:p.Met951Ile
NM_000393.5:c.2991G>A MANE Select	NP_000384.2:p.Met997Ile