Canonical Allele Identifier: CA1315445906

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189098723T= , CM000664.2:g.189098723T=	GRCh38
NC_000002.11:g.189963449T= , CM000664.1:g.189963449T=	GRCh37
NC_000002.10:g.189671694T=	NCBI36
NG_011799.1:g.86157A=
NG_011799.2:g.86157A=
NG_011799.3:g.131579A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.402+4A= MANE Select	ENSP00000364000.3:n.402+4A=
ENST00000649966.1:c.264+4A=	ENSP00000496785.1:n.264+4A=
ENST00000374866.7:c.402+4A=	ENSP00000364000.3:n.402+4A=
ENST00000618828.1:c.-229+4A=	ENSP00000482184.1:n.-229+4A=
NM_000393.3:c.402+4A=	NP_000384.2:n.402+4A=
XM_011510573.1:c.264+4A=	XP_011508875.1:n.264+4A=
NM_000393.4:c.402+4A=	NP_000384.2:n.402+4A=
XM_011510573.3:c.264+4A=	XP_011508875.1:n.264+4A=
NM_000393.5:c.402+4A= MANE Select	NP_000384.2:n.402+4A=