Canonical Allele Identifier: CA430321162

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189910553T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189045827T>C , CM000664.2:g.189045827T>C	GRCh38
NC_000002.11:g.189910553T>C , CM000664.1:g.189910553T>C	GRCh37
NC_000002.10:g.189618798T>C	NCBI36
NG_011799.1:g.139053A>G
NG_011799.2:g.139053A>G
NG_011799.3:g.184475A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3282A>G MANE Select	ENSP00000364000.3:p.Pro1094=
ENST00000374866.7:c.3282A>G	ENSP00000364000.3:p.Pro1094=
ENST00000618828.1:c.2121A>G	ENSP00000482184.1:p.Pro707=
NM_000393.3:c.3282A>G	NP_000384.2:p.Pro1094=
XM_011510573.1:c.3144A>G	XP_011508875.1:p.Pro1048=
NM_000393.4:c.3282A>G	NP_000384.2:p.Pro1094=
XM_011510573.3:c.3144A>G	XP_011508875.1:p.Pro1048=
NM_000393.5:c.3282A>G MANE Select	NP_000384.2:p.Pro1094=