Canonical Allele Identifier: CA12485596

Gene: HIPK2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.139610185C>T , CM000669.2:g.139610185C>T	GRCh38
NC_000007.13:g.139294931C>T , CM000669.1:g.139294931C>T	GRCh37
NC_000007.12:g.138945471C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406875.8:c.2112+3017G>A MANE Select	ENSP00000385571.3:n.2112+3017G>A
ENST00000342645.7:c.2091+3017G>A	ENSP00000343108.7:n.2091+3017G>A
ENST00000406875.7:c.2112+3017G>A	ENSP00000385571.3:n.2112+3017G>A
ENST00000428878.6:c.2031+3017G>A	ENSP00000413724.2:n.2031+3017G>A
NM_001113239.2:c.2031+3017G>A	NP_001106710.1:n.2031+3017G>A
NM_022740.4:c.2112+3017G>A	NP_073577.3:n.2112+3017G>A
XM_006715935.2:c.2091+3017G>A	XP_006715998.1:n.2091+3017G>A
XM_011516077.1:c.2649+3017G>A	XP_011514379.1:n.2649+3017G>A
XM_011516078.1:c.2649+3017G>A	XP_011514380.1:n.2649+3017G>A
XM_011516079.1:c.2568+3017G>A	XP_011514381.1:n.2568+3017G>A
XM_011516080.1:c.2568+3017G>A	XP_011514382.1:n.2568+3017G>A
XM_011516081.1:c.2136+3017G>A	XP_011514383.1:n.2136+3017G>A
XR_928040.1:n.1667-3928C>T
XR_928041.1:n.1811C>T
XM_011516077.3:c.2649+3017G>A	XP_011514379.1:n.2649+3017G>A
XM_011516078.3:c.2649+3017G>A	XP_011514380.1:n.2649+3017G>A
XM_011516079.3:c.2568+3017G>A	XP_011514381.1:n.2568+3017G>A
XM_011516080.3:c.2568+3017G>A	XP_011514382.1:n.2568+3017G>A
XM_011516081.2:c.2136+3017G>A	XP_011514383.1:n.2136+3017G>A
XM_017012069.1:c.2091+3017G>A	XP_016867558.1:n.2091+3017G>A
XR_001745383.1:n.821-3928C>T
NM_022740.5:c.2112+3017G>A MANE Select	NP_073577.3:n.2112+3017G>A
NM_001113239.3:c.2031+3017G>A	NP_001106710.1:n.2031+3017G>A