Canonical Allele Identifier: CA10835944

Gene: CSMD2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.33708220C>T , CM000663.2:g.33708220C>T	GRCh38
NC_000001.10:g.34173820C>T , CM000663.1:g.34173820C>T	GRCh37
NC_000001.9:g.33946407C>T	NCBI36
NG_053181.1:g.462623G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373381.9:c.3576+869G>A MANE Select	ENSP00000362479.4:n.3576+869G>A
ENST00000373388.7:c.3456+869G>A	ENSP00000362486.3:n.3456+869G>A
ENST00000241312.8:c.3456+869G>A	ENSP00000241312.4:n.3456+869G>A
ENST00000373380.5:c.195+869G>A	ENSP00000362478.1:n.195+869G>A
ENST00000373381.8:c.3576+869G>A	ENSP00000362479.4:n.3576+869G>A
ENST00000373388.6:c.3456+869G>A	ENSP00000362486.3:n.3456+869G>A
ENST00000619121.4:c.3456+869G>A	ENSP00000483463.1:n.3456+869G>A
NM_001281956.1:c.3576+869G>A	NP_001268885.1:n.3576+869G>A
NM_052896.4:c.3456+869G>A	NP_443128.2:n.3456+869G>A
XM_011540572.1:c.3576+869G>A	XP_011538874.1:n.3576+869G>A
XM_017000185.1:c.3576+869G>A	XP_016855674.1:n.3576+869G>A
XM_017000188.1:c.3456+869G>A	XP_016855677.1:n.3456+869G>A
XM_017000190.1:c.2841+869G>A	XP_016855679.1:n.2841+869G>A
XM_017000191.1:c.3576+869G>A	XP_016855680.1:n.3576+869G>A
XM_017000192.1:c.3576+869G>A	XP_016855681.1:n.3576+869G>A
XM_017000193.1:c.3576+869G>A	XP_016855682.1:n.3576+869G>A
XM_024452878.1:c.3576+869G>A	XP_024308646.1:n.3576+869G>A
XR_002959290.1:n.3747+869G>A
XR_002959291.1:n.3576+869G>A
XR_002959295.1:n.3747+869G>A
XR_002959296.1:n.3485+869G>A
NM_001281956.2:c.3576+869G>A MANE Select	NP_001268885.1:n.3576+869G>A
NM_052896.5:c.3456+869G>A	NP_443128.2:n.3456+869G>A