Canonical Allele Identifier: CA766686422

Gene: ILKAP

Linked Data

• dbSNP Id: rs1371518857
• gnomAD v3: 2-238186629-C-A
• gnomAD v4: 2-238186629-C-A
• MyVariant Identifiers: chr2:g.239095270C>A (hg19) ; chr2:g.238186629C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.238186629C>A , CM000664.2:g.238186629C>A	GRCh38
NC_000002.11:g.239095270C>A , CM000664.1:g.239095270C>A	GRCh37
NC_000002.10:g.238760009C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254654.8:c.426-1342G>T MANE Select	ENSP00000254654.3:n.426-1342G>T
ENST00000254654.7:c.426-1342G>T	ENSP00000254654.3:n.426-1342G>T
ENST00000457149.1:c.420-1342G>T	ENSP00000395301.1:n.420-1342G>T
ENST00000463129.5:n.974-1342G>T
ENST00000466468.5:n.429G>T
ENST00000479400.1:n.465-1342G>T
ENST00000612675.4:c.425+1502G>T	ENSP00000477533.1:n.425+1502G>T
ENST00000622223.4:c.179-2516G>T	ENSP00000477542.1:n.179-2516G>T
NM_030768.2:c.426-1342G>T	NP_110395.1:n.426-1342G>T
XM_005246106.1:c.66-1342G>T	XP_005246163.1:n.66-1342G>T
XM_006712784.1:c.222-1342G>T	XP_006712847.1:n.222-1342G>T
XM_011511946.1:c.30-1342G>T	XP_011510248.1:n.30-1342G>T
XR_923033.1:n.575-1342G>T
XM_011511946.2:c.30-1342G>T	XP_011510248.1:n.30-1342G>T
XM_017005056.2:c.66-1342G>T	XP_016860545.1:n.66-1342G>T
XM_017005057.1:c.66-1342G>T	XP_016860546.1:n.66-1342G>T
XM_017005058.1:c.30-1342G>T	XP_016860547.1:n.30-1342G>T
XM_024453162.1:c.66-1342G>T	XP_024308930.1:n.66-1342G>T
NM_030768.3:c.426-1342G>T MANE Select	NP_110395.1:n.426-1342G>T