Canonical Allele Identifier: CA15498279
Gene: SKAP2 HGNC NCBI

Linked Data

dbSNP Id: rs7804356

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
ENST00000345317.6:c.199+2091A>G ENSP00000005587.2:p.=
ENST00000432747.1:c.154+2091A>G ENSP00000408163.1:p.=
NM_001303468.1:c.-318+2091A>G NP_001290397.1:p.=
NM_003930.4:c.199+2091A>G NP_003921.2:p.=
XM_017012771.2:c.199+2091A>G XP_016868260.1:p.=
NM_003930.5:c.199+2091A>G MANE Select NP_003921.2:p.=
NM_001303468.2:c.-318+2091A>G NP_001290397.1:p.=