Canonical Allele Identifier: CA913235722

Gene: CSMD2

Linked Data

• dbSNP Id: rs1557468206
• gnomAD v2: 1-33983047-A-C
• gnomAD v3: 1-33517447-A-C
• gnomAD v4: 1-33517447-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.33517447A>C , CM000663.2:g.33517447A>C	GRCh38
NC_000001.10:g.33983047A>C , CM000663.1:g.33983047A>C	GRCh37
NC_000001.9:g.33755634A>C	NCBI36
NG_053181.1:g.653396T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000373381.9:c.*54-877T>G MANE Select	ENSP00000362479.4:n.*54-877T>G
ENST00000373388.7:c.*54-877T>G	ENSP00000362486.3:n.*54-877T>G
ENST00000241312.8:c.*54-877T>G	ENSP00000241312.4:n.*54-877T>G
ENST00000373381.8:c.*54-877T>G	ENSP00000362479.4:n.*54-877T>G
ENST00000373388.6:c.*54-877T>G	ENSP00000362486.3:n.*54-877T>G
ENST00000619121.4:c.*54-877T>G	ENSP00000483463.1:n.*54-877T>G
NM_001281956.1:c.*54-877T>G	NP_001268885.1:n.*54-877T>G
NM_052896.4:c.*54-877T>G	NP_443128.2:n.*54-877T>G
XM_011540572.1:c.*187T>G	XP_011538874.1:n.*187T>G
XM_017000185.1:c.*2071T>G	XP_016855674.1:n.*2071T>G
XM_017000188.1:c.*2071T>G	XP_016855677.1:n.*2071T>G
XM_017000190.1:c.*2071T>G	XP_016855679.1:n.*2071T>G
XM_024452878.1:c.*2071T>G	XP_024308646.1:n.*2071T>G
XR_002959290.1:n.11049-877T>G
XR_002959291.1:n.10875-877T>G
XR_002959296.1:n.10784-877T>G
NM_001281956.2:c.*54-877T>G MANE Select	NP_001268885.1:n.*54-877T>G
NM_052896.5:c.*54-877T>G	NP_443128.2:n.*54-877T>G