Canonical Allele Identifier: CA1139926533

Gene: CSMD2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.33894257G= , CM000663.2:g.33894257G=	GRCh38
NC_000001.10:g.34359858G= , CM000663.1:g.34359858G=	GRCh37
NC_000001.9:g.34132445G=	NCBI36
NG_053181.1:g.276586C=

Transcript Alleles

HGVS	Amino-acid Change
NM_001281956.2:c.920+23837C= MANE Select	NP_001268885.1:n.920+23837C=
ENST00000373381.9:c.920+23837C= MANE Select	ENSP00000362479.4:n.920+23837C=
NM_001281956.1:c.920+23837C=	NP_001268885.1:n.920+23837C=
NM_052896.4:c.800+23837C=	NP_443128.2:n.800+23837C=
NM_052896.5:c.800+23837C=	NP_443128.2:n.800+23837C=
ENST00000241312.8:c.800+23837C=	ENSP00000241312.4:n.800+23837C=
ENST00000373381.8:c.920+23837C=	ENSP00000362479.4:n.920+23837C=
ENST00000373388.6:c.800+23837C=	ENSP00000362486.3:n.800+23837C=
ENST00000373388.7:c.800+23837C=	ENSP00000362486.3:n.800+23837C=
ENST00000619121.4:c.800+23837C=	ENSP00000483463.1:n.800+23837C=
XM_011540572.1:c.920+23837C=	XP_011538874.1:n.920+23837C=
XM_017000185.1:c.920+23837C=	XP_016855674.1:n.920+23837C=
XM_017000188.1:c.800+23837C=	XP_016855677.1:n.800+23837C=
XM_017000190.1:c.920+23837C=	XP_016855679.1:n.920+23837C=
XM_017000191.1:c.920+23837C=	XP_016855680.1:n.920+23837C=
XM_017000192.1:c.920+23837C=	XP_016855681.1:n.920+23837C=
XM_017000193.1:c.920+23837C=	XP_016855682.1:n.920+23837C=
XM_024452878.1:c.920+23837C=	XP_024308646.1:n.920+23837C=
XR_002959290.1:n.1091+23837C=
XR_002959291.1:n.920+23837C=
XR_002959295.1:n.1091+23837C=
XR_002959296.1:n.829+23837C=