Canonical Allele Identifier: CA1315445866

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189098591G= , CM000664.2:g.189098591G=	GRCh38
NC_000002.11:g.189963317G= , CM000664.1:g.189963317G=	GRCh37
NC_000002.10:g.189671562G=	NCBI36
NG_011799.1:g.86289C=
NG_011799.2:g.86289C=
NG_011799.3:g.131711C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.402+136C= MANE Select	ENSP00000364000.3:n.402+136C=
ENST00000649966.1:c.264+136C=	ENSP00000496785.1:n.264+136C=
ENST00000374866.7:c.402+136C=	ENSP00000364000.3:n.402+136C=
ENST00000618828.1:c.-229+136C=	ENSP00000482184.1:n.-229+136C=
NM_000393.3:c.402+136C=	NP_000384.2:n.402+136C=
XM_011510573.1:c.264+136C=	XP_011508875.1:n.264+136C=
NM_000393.4:c.402+136C=	NP_000384.2:n.402+136C=
XM_011510573.3:c.264+136C=	XP_011508875.1:n.264+136C=
NM_000393.5:c.402+136C= MANE Select	NP_000384.2:n.402+136C=