Canonical Allele Identifier: CA2532503240

Gene: SKAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.26852047G>A , CM000669.2:g.26852047G>A	GRCh38
NC_000007.13:g.26891666G>A , CM000669.1:g.26891666G>A	GRCh37
NC_000007.12:g.26858191G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000345317.7:c.199+2090C>T MANE Select	ENSP00000005587.2:n.199+2090C>T
ENST00000345317.6:c.199+2090C>T	ENSP00000005587.2:n.199+2090C>T
ENST00000432747.1:c.154+2090C>T	ENSP00000408163.1:n.154+2090C>T
ENST00000468712.5:n.360+2090C>T
ENST00000481204.5:n.404+2090C>T
ENST00000487720.1:n.355+2090C>T
ENST00000490456.6:n.372+2090C>T
ENST00000495802.5:n.166+2090C>T
ENST00000497511.5:n.357+2090C>T
NM_001303468.1:c.-318+2090C>T	NP_001290397.1:n.-318+2090C>T
NM_003930.4:c.199+2090C>T	NP_003921.2:n.199+2090C>T
XR_927132.1:n.252-5417G>A
XM_017012771.2:c.199+2090C>T	XP_016868260.1:n.199+2090C>T
NM_003930.5:c.199+2090C>T MANE Select	NP_003921.2:n.199+2090C>T
NM_001303468.2:c.-318+2090C>T	NP_001290397.1:n.-318+2090C>T