Canonical Allele Identifier: CA349866921

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189915323C>G (hg19) ; chr2:g.189050597C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050597C>G , CM000664.2:g.189050597C>G	GRCh38
NC_000002.11:g.189915323C>G , CM000664.1:g.189915323C>G	GRCh37
NC_000002.10:g.189623568C>G	NCBI36
NG_011799.1:g.134283G>C
NG_011799.2:g.134283G>C
NG_011799.3:g.179705G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3011G>C MANE Select	ENSP00000364000.3:p.Arg1004Thr
ENST00000374866.7:c.3011G>C	ENSP00000364000.3:p.Arg1004Thr
ENST00000618828.1:c.1850G>C	ENSP00000482184.1:p.Arg617Thr
NM_000393.3:c.3011G>C	NP_000384.2:p.Arg1004Thr
XM_011510573.1:c.2873G>C	XP_011508875.1:p.Arg958Thr
NM_000393.4:c.3011G>C	NP_000384.2:p.Arg1004Thr
XM_011510573.3:c.2873G>C	XP_011508875.1:p.Arg958Thr
NM_000393.5:c.3011G>C MANE Select	NP_000384.2:p.Arg1004Thr