Canonical Allele Identifier: CA2838198160

Gene: CSMD2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.33562967_33562968dup , CM000663.2:g.33562967_33562968dup	GRCh38
NC_000001.10:g.34028567_34028568dup , CM000663.1:g.34028567_34028568dup	GRCh37
NC_000001.9:g.33801154_33801155dup	NCBI36
NG_053181.1:g.607883_607884dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373381.9:c.8381-3487_8381-3486dup MANE Select	ENSP00000362479.4:n.8381-3487_8381-3486dup
ENST00000373388.7:c.8311+4633_8311+4634dup	ENSP00000362486.3:n.8311+4633_8311+4634dup
ENST00000241312.8:c.8311+4633_8311+4634dup	ENSP00000241312.4:n.8311+4633_8311+4634dup
ENST00000373381.8:c.8381-3487_8381-3486dup	ENSP00000362479.4:n.8381-3487_8381-3486dup
ENST00000373388.6:c.8311+4633_8311+4634dup	ENSP00000362486.3:n.8311+4633_8311+4634dup
ENST00000465819.1:n.629-3487_629-3486dup
ENST00000619121.4:c.8261-3487_8261-3486dup	ENSP00000483463.1:n.8261-3487_8261-3486dup
NM_001281956.1:c.8381-3487_8381-3486dup	NP_001268885.1:n.8381-3487_8381-3486dup
NM_052896.4:c.8311+4633_8311+4634dup	NP_443128.2:n.8311+4633_8311+4634dup
XM_011540572.1:c.8306-3487_8306-3486dup	XP_011538874.1:n.8306-3487_8306-3486dup
XM_017000185.1:c.8306-3487_8306-3486dup	XP_016855674.1:n.8306-3487_8306-3486dup
XM_017000188.1:c.8186-3487_8186-3486dup	XP_016855677.1:n.8186-3487_8186-3486dup
XM_017000190.1:c.7571-3487_7571-3486dup	XP_016855679.1:n.7571-3487_7571-3486dup
XM_017000191.1:c.8302-3487_8302-3486dup	XP_016855680.1:n.8302-3487_8302-3486dup
XM_024452878.1:c.8381-3487_8381-3486dup	XP_024308646.1:n.8381-3487_8381-3486dup
XR_002959290.1:n.8477-3487_8477-3486dup
XR_002959291.1:n.8306-3487_8306-3486dup
XR_002959295.1:n.8477-3487_8477-3486dup
XR_002959296.1:n.8215-3487_8215-3486dup
NM_001281956.2:c.8381-3487_8381-3486dup MANE Select	NP_001268885.1:n.8381-3487_8381-3486dup
NM_052896.5:c.8311+4633_8311+4634dup	NP_443128.2:n.8311+4633_8311+4634dup