Canonical Allele Identifier: CA522267383

Gene: CSMD2

Linked Data

• dbSNP Id: rs2794599
• gnomAD v2: 1-33983043-C-A
• gnomAD v3: 1-33517443-C-A
• gnomAD v4: 1-33517443-C-A
• MyVariant Identifiers: chr1:g.33983043C>A (hg19) ; chr1:g.33517443C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.33517443C>A , CM000663.2:g.33517443C>A	GRCh38
NC_000001.10:g.33983043C>A , CM000663.1:g.33983043C>A	GRCh37
NC_000001.9:g.33755630C>A	NCBI36
NG_053181.1:g.653400G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000373381.9:c.*54-873G>T MANE Select	ENSP00000362479.4:n.*54-873G>T
ENST00000373388.7:c.*54-873G>T	ENSP00000362486.3:n.*54-873G>T
ENST00000241312.8:c.*54-873G>T	ENSP00000241312.4:n.*54-873G>T
ENST00000373381.8:c.*54-873G>T	ENSP00000362479.4:n.*54-873G>T
ENST00000373388.6:c.*54-873G>T	ENSP00000362486.3:n.*54-873G>T
ENST00000619121.4:c.*54-873G>T	ENSP00000483463.1:n.*54-873G>T
NM_001281956.1:c.*54-873G>T	NP_001268885.1:n.*54-873G>T
NM_052896.4:c.*54-873G>T	NP_443128.2:n.*54-873G>T
XM_011540572.1:c.*191G>T	XP_011538874.1:n.*191G>T
XM_017000185.1:c.*2075G>T	XP_016855674.1:n.*2075G>T
XM_017000188.1:c.*2075G>T	XP_016855677.1:n.*2075G>T
XM_017000190.1:c.*2075G>T	XP_016855679.1:n.*2075G>T
XM_024452878.1:c.*2075G>T	XP_024308646.1:n.*2075G>T
XR_002959290.1:n.11049-873G>T
XR_002959291.1:n.10875-873G>T
XR_002959296.1:n.10784-873G>T
NM_001281956.2:c.*54-873G>T MANE Select	NP_001268885.1:n.*54-873G>T
NM_052896.5:c.*54-873G>T	NP_443128.2:n.*54-873G>T