Canonical Allele Identifier: CA15498279
Gene: SKAP2 HGNC NCBI

Linked Data

dbSNP Id: rs7804356
gnomAD v2: 7-26891665-T-C
gnomAD v3: 7-26852046-T-C
gnomAD v4: 7-26852046-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.26852046T>C , CM000669.2:g.26852046T>C GRCh38
NC_000007.13:g.26891665T>C , CM000669.1:g.26891665T>C GRCh37
NC_000007.12:g.26858190T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000345317.7:c.199+2091A>G MANE Select ENSP00000005587.2:n.199+2091A>G
ENST00000345317.6:c.199+2091A>G ENSP00000005587.2:n.199+2091A>G
ENST00000432747.1:c.154+2091A>G ENSP00000408163.1:n.154+2091A>G
ENST00000468712.5:n.360+2091A>G
ENST00000481204.5:n.404+2091A>G
ENST00000487720.1:n.355+2091A>G
ENST00000490456.6:n.372+2091A>G
ENST00000495802.5:n.166+2091A>G
ENST00000497511.5:n.357+2091A>G
NM_001303468.1:c.-318+2091A>G NP_001290397.1:n.-318+2091A>G
NM_003930.4:c.199+2091A>G NP_003921.2:n.199+2091A>G
XR_927132.1:n.252-5418T>C
XM_017012771.2:c.199+2091A>G XP_016868260.1:n.199+2091A>G
NM_003930.5:c.199+2091A>G MANE Select NP_003921.2:n.199+2091A>G
NM_001303468.2:c.-318+2091A>G NP_001290397.1:n.-318+2091A>G