Canonical Allele Identifier: CA1099601388

Gene: SKAP2

Linked Data

• gnomAD v3: 7-26852007-A-G
• gnomAD v4: 7-26852007-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.26852007A>G , CM000669.2:g.26852007A>G	GRCh38
NC_000007.13:g.26891626A>G , CM000669.1:g.26891626A>G	GRCh37
NC_000007.12:g.26858151A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000345317.7:c.199+2130T>C MANE Select	ENSP00000005587.2:n.199+2130T>C
ENST00000345317.6:c.199+2130T>C	ENSP00000005587.2:n.199+2130T>C
ENST00000432747.1:c.154+2130T>C	ENSP00000408163.1:n.154+2130T>C
ENST00000468712.5:n.360+2130T>C
ENST00000481204.5:n.404+2130T>C
ENST00000487720.1:n.355+2130T>C
ENST00000490456.6:n.372+2130T>C
ENST00000495802.5:n.166+2130T>C
ENST00000497511.5:n.357+2130T>C
NM_001303468.1:c.-318+2130T>C	NP_001290397.1:n.-318+2130T>C
NM_003930.4:c.199+2130T>C	NP_003921.2:n.199+2130T>C
XR_927132.1:n.252-5457A>G
XM_017012771.2:c.199+2130T>C	XP_016868260.1:n.199+2130T>C
NM_003930.5:c.199+2130T>C MANE Select	NP_003921.2:n.199+2130T>C
NM_001303468.2:c.-318+2130T>C	NP_001290397.1:n.-318+2130T>C