Canonical Allele Identifier: CA1315418844

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189045877G= , CM000664.2:g.189045877G=	GRCh38
NC_000002.11:g.189910603G= , CM000664.1:g.189910603G=	GRCh37
NC_000002.10:g.189618848G=	NCBI36
NG_011799.1:g.139003C=
NG_011799.2:g.139003C=
NG_011799.3:g.184425C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3232C= MANE Select	ENSP00000364000.3:p.Leu1078=
ENST00000374866.7:c.3232C=	ENSP00000364000.3:p.Leu1078=
ENST00000618828.1:c.2071C=	ENSP00000482184.1:p.Leu691=
NM_000393.3:c.3232C=	NP_000384.2:p.Leu1078=
XM_011510573.1:c.3094C=	XP_011508875.1:p.Leu1032=
NM_000393.4:c.3232C=	NP_000384.2:p.Leu1078=
XM_011510573.3:c.3094C=	XP_011508875.1:p.Leu1032=
NM_000393.5:c.3232C= MANE Select	NP_000384.2:p.Leu1078=