Canonical Allele Identifier: CA430321945

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189915295C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050569C>A , CM000664.2:g.189050569C>A	GRCh38
NC_000002.11:g.189915295C>A , CM000664.1:g.189915295C>A	GRCh37
NC_000002.10:g.189623540C>A	NCBI36
NG_011799.1:g.134311G>T
NG_011799.2:g.134311G>T
NG_011799.3:g.179733G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3039G>T MANE Select	ENSP00000364000.3:p.Ala1013=
ENST00000374866.7:c.3039G>T	ENSP00000364000.3:p.Ala1013=
ENST00000618828.1:c.1878G>T	ENSP00000482184.1:p.Ala626=
NM_000393.3:c.3039G>T	NP_000384.2:p.Ala1013=
XM_011510573.1:c.2901G>T	XP_011508875.1:p.Ala967=
NM_000393.4:c.3039G>T	NP_000384.2:p.Ala1013=
XM_011510573.3:c.2901G>T	XP_011508875.1:p.Ala967=
NM_000393.5:c.3039G>T MANE Select	NP_000384.2:p.Ala1013=