Canonical Allele Identifier: CA430321240

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189910601C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189045875C>A , CM000664.2:g.189045875C>A	GRCh38
NC_000002.11:g.189910601C>A , CM000664.1:g.189910601C>A	GRCh37
NC_000002.10:g.189618846C>A	NCBI36
NG_011799.1:g.139005G>T
NG_011799.2:g.139005G>T
NG_011799.3:g.184427G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3234G>T MANE Select	ENSP00000364000.3:p.Leu1078=
ENST00000374866.7:c.3234G>T	ENSP00000364000.3:p.Leu1078=
ENST00000618828.1:c.2073G>T	ENSP00000482184.1:p.Leu691=
NM_000393.3:c.3234G>T	NP_000384.2:p.Leu1078=
XM_011510573.1:c.3096G>T	XP_011508875.1:p.Leu1032=
NM_000393.4:c.3234G>T	NP_000384.2:p.Leu1078=
XM_011510573.3:c.3096G>T	XP_011508875.1:p.Leu1032=
NM_000393.5:c.3234G>T MANE Select	NP_000384.2:p.Leu1078=