Canonical Allele Identifier: CA156328908

Gene: SKAP2

Linked Data

• dbSNP Id: rs897062884
• gnomAD v2: 7-26891607-T-C
• gnomAD v3: 7-26851988-T-C
• gnomAD v4: 7-26851988-T-C
• MyVariant Identifiers: chr7:g.26891607T>C (hg19) ; chr7:g.26851988T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.26851988T>C , CM000669.2:g.26851988T>C	GRCh38
NC_000007.13:g.26891607T>C , CM000669.1:g.26891607T>C	GRCh37
NC_000007.12:g.26858132T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000345317.7:c.199+2149A>G MANE Select	ENSP00000005587.2:n.199+2149A>G
ENST00000345317.6:c.199+2149A>G	ENSP00000005587.2:n.199+2149A>G
ENST00000432747.1:c.154+2149A>G	ENSP00000408163.1:n.154+2149A>G
ENST00000468712.5:n.360+2149A>G
ENST00000481204.5:n.404+2149A>G
ENST00000487720.1:n.355+2149A>G
ENST00000490456.6:n.372+2149A>G
ENST00000495802.5:n.166+2149A>G
ENST00000497511.5:n.357+2149A>G
NM_001303468.1:c.-318+2149A>G	NP_001290397.1:n.-318+2149A>G
NM_003930.4:c.199+2149A>G	NP_003921.2:n.199+2149A>G
XR_927132.1:n.252-5476T>C
XM_017012771.2:c.199+2149A>G	XP_016868260.1:n.199+2149A>G
NM_003930.5:c.199+2149A>G MANE Select	NP_003921.2:n.199+2149A>G
NM_001303468.2:c.-318+2149A>G	NP_001290397.1:n.-318+2149A>G