Canonical Allele Identifier: CA349862913

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189910630C>T (hg19) ; chr2:g.189045904C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189045904C>T , CM000664.2:g.189045904C>T	GRCh38
NC_000002.11:g.189910630C>T , CM000664.1:g.189910630C>T	GRCh37
NC_000002.10:g.189618875C>T	NCBI36
NG_011799.1:g.138976G>A
NG_011799.2:g.138976G>A
NG_011799.3:g.184398G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374866.9:c.3205G>A MANE Select	ENSP00000364000.3:p.Asp1069Asn
ENST00000374866.7:c.3205G>A	ENSP00000364000.3:p.Asp1069Asn
ENST00000618828.1:c.2044G>A	ENSP00000482184.1:p.Asp682Asn
NM_000393.3:c.3205G>A	NP_000384.2:p.Asp1069Asn
XM_011510573.1:c.3067G>A	XP_011508875.1:p.Asp1023Asn
NM_000393.4:c.3205G>A	NP_000384.2:p.Asp1069Asn
XM_011510573.3:c.3067G>A	XP_011508875.1:p.Asp1023Asn
NM_000393.5:c.3205G>A MANE Select	NP_000384.2:p.Asp1069Asn