Canonical Allele Identifier: CA349862895

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189910629T>A (hg19) ; chr2:g.189045903T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189045903T>A , CM000664.2:g.189045903T>A	GRCh38
NC_000002.11:g.189910629T>A , CM000664.1:g.189910629T>A	GRCh37
NC_000002.10:g.189618874T>A	NCBI36
NG_011799.1:g.138977A>T
NG_011799.2:g.138977A>T
NG_011799.3:g.184399A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374866.9:c.3206A>T MANE Select	ENSP00000364000.3:p.Asp1069Val
ENST00000374866.7:c.3206A>T	ENSP00000364000.3:p.Asp1069Val
ENST00000618828.1:c.2045A>T	ENSP00000482184.1:p.Asp682Val
NM_000393.3:c.3206A>T	NP_000384.2:p.Asp1069Val
XM_011510573.1:c.3068A>T	XP_011508875.1:p.Asp1023Val
NM_000393.4:c.3206A>T	NP_000384.2:p.Asp1069Val
XM_011510573.3:c.3068A>T	XP_011508875.1:p.Asp1023Val
NM_000393.5:c.3206A>T MANE Select	NP_000384.2:p.Asp1069Val