Canonical Allele Identifier: CA2774808370

Gene: SKAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.26851882T>C , CM000669.2:g.26851882T>C	GRCh38
NC_000007.13:g.26891501T>C , CM000669.1:g.26891501T>C	GRCh37
NC_000007.12:g.26858026T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345317.7:c.199+2255A>G MANE Select	ENSP00000005587.2:n.199+2255A>G
ENST00000345317.6:c.199+2255A>G	ENSP00000005587.2:n.199+2255A>G
ENST00000432747.1:c.154+2255A>G	ENSP00000408163.1:n.154+2255A>G
ENST00000468712.5:n.360+2255A>G
ENST00000481204.5:n.404+2255A>G
ENST00000487720.1:n.355+2255A>G
ENST00000490456.6:n.372+2255A>G
ENST00000495802.5:n.166+2255A>G
ENST00000497511.5:n.357+2255A>G
NM_001303468.1:c.-318+2255A>G	NP_001290397.1:n.-318+2255A>G
NM_003930.4:c.199+2255A>G	NP_003921.2:n.199+2255A>G
XR_927132.1:n.252-5582T>C
XM_017012771.2:c.199+2255A>G	XP_016868260.1:n.199+2255A>G
NM_003930.5:c.199+2255A>G MANE Select	NP_003921.2:n.199+2255A>G
NM_001303468.2:c.-318+2255A>G	NP_001290397.1:n.-318+2255A>G