Canonical Allele Identifier: CA1099601346

Gene: SKAP2

Linked Data

• dbSNP Id: rs1785053309
• gnomAD v3: 7-26851953-C-A
• gnomAD v4: 7-26851953-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.26851953C>A , CM000669.2:g.26851953C>A	GRCh38
NC_000007.13:g.26891572C>A , CM000669.1:g.26891572C>A	GRCh37
NC_000007.12:g.26858097C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000345317.7:c.199+2184G>T MANE Select	ENSP00000005587.2:n.199+2184G>T
ENST00000345317.6:c.199+2184G>T	ENSP00000005587.2:n.199+2184G>T
ENST00000432747.1:c.154+2184G>T	ENSP00000408163.1:n.154+2184G>T
ENST00000468712.5:n.360+2184G>T
ENST00000481204.5:n.404+2184G>T
ENST00000487720.1:n.355+2184G>T
ENST00000490456.6:n.372+2184G>T
ENST00000495802.5:n.166+2184G>T
ENST00000497511.5:n.357+2184G>T
NM_001303468.1:c.-318+2184G>T	NP_001290397.1:n.-318+2184G>T
NM_003930.4:c.199+2184G>T	NP_003921.2:n.199+2184G>T
XR_927132.1:n.252-5511C>A
XM_017012771.2:c.199+2184G>T	XP_016868260.1:n.199+2184G>T
NM_003930.5:c.199+2184G>T MANE Select	NP_003921.2:n.199+2184G>T
NM_001303468.2:c.-318+2184G>T	NP_001290397.1:n.-318+2184G>T