Canonical Allele Identifier: CA562741189

Gene: CDC42SE2

Linked Data

• dbSNP Id: rs1193360506
• gnomAD v2: 5-130709442-G-A
• gnomAD v3: 5-131373749-G-A
• gnomAD v4: 5-131373749-G-A
• MyVariant Identifiers: chr5:g.130709442G>A (hg19) ; chr5:g.131373749G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.131373749G>A , CM000667.2:g.131373749G>A	GRCh38
NC_000005.9:g.130709442G>A , CM000667.1:g.130709442G>A	GRCh37
NC_000005.8:g.130737341G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505065.2:c.55-11794G>A MANE Select	ENSP00000427421.1:n.55-11794G>A
ENST00000360515.7:c.55-11794G>A	ENSP00000353706.3:n.55-11794G>A
ENST00000395246.5:c.55-11794G>A	ENSP00000378667.1:n.55-11794G>A
ENST00000503291.5:c.-27-11794G>A	ENSP00000426779.1:n.-27-11794G>A
ENST00000505065.1:c.55-11794G>A	ENSP00000427421.1:n.55-11794G>A
NM_001038702.1:c.55-11794G>A	NP_001033791.1:n.55-11794G>A
NM_020240.2:c.55-11794G>A	NP_064625.1:n.55-11794G>A
XM_017009648.2:c.55-11794G>A	XP_016865137.1:n.55-11794G>A
XM_017009649.2:c.55-11794G>A	XP_016865138.1:n.55-11794G>A
NM_001038702.2:c.55-11794G>A	NP_001033791.1:n.55-11794G>A
NM_001375633.1:c.55-11794G>A	NP_001362562.1:n.55-11794G>A
NM_001375634.1:c.55-11794G>A	NP_001362563.1:n.55-11794G>A
NM_001375635.1:c.55-11794G>A MANE Select	NP_001362564.1:n.55-11794G>A
NM_020240.3:c.55-11794G>A	NP_064625.1:n.55-11794G>A