Canonical Allele Identifier: CA349862480

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189910537T>C (hg19) ; chr2:g.189045811T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189045811T>C , CM000664.2:g.189045811T>C	GRCh38
NC_000002.11:g.189910537T>C , CM000664.1:g.189910537T>C	GRCh37
NC_000002.10:g.189618782T>C	NCBI36
NG_011799.1:g.139069A>G
NG_011799.2:g.139069A>G
NG_011799.3:g.184491A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374866.9:c.3298A>G MANE Select	ENSP00000364000.3:p.Arg1100Gly
ENST00000374866.7:c.3298A>G	ENSP00000364000.3:p.Arg1100Gly
ENST00000618828.1:c.2137A>G	ENSP00000482184.1:p.Arg713Gly
NM_000393.3:c.3298A>G	NP_000384.2:p.Arg1100Gly
XM_011510573.1:c.3160A>G	XP_011508875.1:p.Arg1054Gly
NM_000393.4:c.3298A>G	NP_000384.2:p.Arg1100Gly
XM_011510573.3:c.3160A>G	XP_011508875.1:p.Arg1054Gly
NM_000393.5:c.3298A>G MANE Select	NP_000384.2:p.Arg1100Gly