Canonical Allele Identifier: CA430307720

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189963468A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189098742A>C , CM000664.2:g.189098742A>C	GRCh38
NC_000002.11:g.189963468A>C , CM000664.1:g.189963468A>C	GRCh37
NC_000002.10:g.189671713A>C	NCBI36
NG_011799.1:g.86138T>G
NG_011799.2:g.86138T>G
NG_011799.3:g.131560T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.387T>G MANE Select	ENSP00000364000.3:p.Gly129=
ENST00000649966.1:c.249T>G	ENSP00000496785.1:p.Gly83=
ENST00000374866.7:c.387T>G	ENSP00000364000.3:p.Gly129=
ENST00000618828.1:c.-244T>G	ENSP00000482184.1:n.-244T>G
NM_000393.3:c.387T>G	NP_000384.2:p.Gly129=
XM_011510573.1:c.249T>G	XP_011508875.1:p.Gly83=
NM_000393.4:c.387T>G	NP_000384.2:p.Gly129=
XM_011510573.3:c.249T>G	XP_011508875.1:p.Gly83=
NM_000393.5:c.387T>G MANE Select	NP_000384.2:p.Gly129=