Canonical Allele Identifier: CA430307728

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189963474T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189098748T>A , CM000664.2:g.189098748T>A	GRCh38
NC_000002.11:g.189963474T>A , CM000664.1:g.189963474T>A	GRCh37
NC_000002.10:g.189671719T>A	NCBI36
NG_011799.1:g.86132A>T
NG_011799.2:g.86132A>T
NG_011799.3:g.131554A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.381A>T MANE Select	ENSP00000364000.3:p.Ile127=
ENST00000649966.1:c.243A>T	ENSP00000496785.1:p.Ile81=
ENST00000374866.7:c.381A>T	ENSP00000364000.3:p.Ile127=
ENST00000618828.1:c.-250A>T	ENSP00000482184.1:n.-250A>T
NM_000393.3:c.381A>T	NP_000384.2:p.Ile127=
XM_011510573.1:c.243A>T	XP_011508875.1:p.Ile81=
NM_000393.4:c.381A>T	NP_000384.2:p.Ile127=
XM_011510573.3:c.243A>T	XP_011508875.1:p.Ile81=
NM_000393.5:c.381A>T MANE Select	NP_000384.2:p.Ile127=