Canonical Allele Identifier: CA766686513

Gene: ILKAP

Linked Data

• dbSNP Id: rs12472274
• MyVariant Identifiers: chr2:g.239095422G>T (hg19) ; chr2:g.238186781G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.238186781G>T , CM000664.2:g.238186781G>T	GRCh38
NC_000002.11:g.239095422G>T , CM000664.1:g.239095422G>T	GRCh37
NC_000002.10:g.238760161G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000254654.8:c.425+1350C>A MANE Select	ENSP00000254654.3:n.425+1350C>A
ENST00000254654.7:c.425+1350C>A	ENSP00000254654.3:n.425+1350C>A
ENST00000457149.1:c.419+1350C>A	ENSP00000395301.1:n.419+1350C>A
ENST00000463129.5:n.973+1350C>A
ENST00000466468.5:n.277C>A
ENST00000479400.1:n.464+1350C>A
ENST00000612675.4:c.425+1350C>A	ENSP00000477533.1:n.425+1350C>A
ENST00000622223.4:c.179-2668C>A	ENSP00000477542.1:n.179-2668C>A
NM_030768.2:c.425+1350C>A	NP_110395.1:n.425+1350C>A
XM_005246106.1:c.65+1350C>A	XP_005246163.1:n.65+1350C>A
XM_006712784.1:c.221+1350C>A	XP_006712847.1:n.221+1350C>A
XM_011511946.1:c.30-1494C>A	XP_011510248.1:n.30-1494C>A
XR_923033.1:n.574+1350C>A
XM_011511946.2:c.30-1494C>A	XP_011510248.1:n.30-1494C>A
XM_017005056.2:c.65+1350C>A	XP_016860545.1:n.65+1350C>A
XM_017005057.1:c.65+1350C>A	XP_016860546.1:n.65+1350C>A
XM_017005058.1:c.30-1494C>A	XP_016860547.1:n.30-1494C>A
XM_024453162.1:c.65+1350C>A	XP_024308930.1:n.65+1350C>A
NM_030768.3:c.425+1350C>A MANE Select	NP_110395.1:n.425+1350C>A