Canonical Allele Identifier: CA1315445910

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189098731G= , CM000664.2:g.189098731G=	GRCh38
NC_000002.11:g.189963457G= , CM000664.1:g.189963457G=	GRCh37
NC_000002.10:g.189671702G=	NCBI36
NG_011799.1:g.86149C=
NG_011799.2:g.86149C=
NG_011799.3:g.131571C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.398C= MANE Select	ENSP00000364000.3:p.Pro133=
ENST00000649966.1:c.260C=	ENSP00000496785.1:p.Pro87=
ENST00000374866.7:c.398C=	ENSP00000364000.3:p.Pro133=
ENST00000618828.1:c.-233C=	ENSP00000482184.1:n.-233C=
NM_000393.3:c.398C=	NP_000384.2:p.Pro133=
XM_011510573.1:c.260C=	XP_011508875.1:p.Pro87=
NM_000393.4:c.398C=	NP_000384.2:p.Pro133=
XM_011510573.3:c.260C=	XP_011508875.1:p.Pro87=
NM_000393.5:c.398C= MANE Select	NP_000384.2:p.Pro133=