Canonical Allele Identifier: CA1519357

Gene: KIDINS220

Linked Data

• dbSNP Id: rs758256024
• ExAC: 2:8871657 G / A
• gnomAD v2: 2-8871657-G-A
• gnomAD v4: 2-8731527-G-A
• MyVariant Identifiers: chr2:g.8871657G>A (hg19) ; chr2:g.8731527G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.8731527G>A , CM000664.2:g.8731527G>A	GRCh38
NC_000002.11:g.8871657G>A , CM000664.1:g.8871657G>A	GRCh37
NC_000002.10:g.8789108G>A	NCBI36
NG_053168.1:g.111113C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000685097.1:c.4212C>T	ENSP00000510510.1:p.Phe1404=
ENST00000686383.1:n.4394C>T
ENST00000686906.1:c.*397C>T	ENSP00000508907.1:n.*397C>T
ENST00000687894.1:c.*1881C>T	ENSP00000509577.1:n.*1881C>T
ENST00000687912.1:c.4014C>T	ENSP00000508455.1:p.Phe1338=
ENST00000689369.1:c.3882+1917C>T	ENSP00000509856.1:n.3882+1917C>T
ENST00000689852.1:c.3915+1917C>T	ENSP00000510537.1:n.3915+1917C>T
ENST00000691030.1:c.4488C>T	ENSP00000510148.1:p.Phe1496=
ENST00000693394.1:c.3882+1917C>T	ENSP00000509014.1:n.3882+1917C>T
ENST00000693432.1:c.4053+1917C>T	ENSP00000510486.1:n.4053+1917C>T
ENST00000693597.1:n.861+1917C>T
ENST00000256707.8:c.4509C>T MANE Select	ENSP00000256707.4:p.Phe1503=
ENST00000569008.2:c.3882+1917C>T	ENSP00000491461.1:n.3882+1917C>T
ENST00000256707.7:c.4509C>T	ENSP00000256707.3:p.Phe1503=
ENST00000473731.5:c.4452C>T	ENSP00000418974.1:p.Phe1484=
ENST00000488729.5:c.*4398C>T	ENSP00000417390.1:n.*4398C>T
ENST00000496383.5:c.3123+1917C>T	ENSP00000420364.1:n.3123+1917C>T
NM_020738.2:c.4509C>T	NP_065789.1:p.Phe1503=
NM_001348729.1:c.4512C>T	NP_001335658.1:p.Phe1504=
NM_001348731.1:c.4455C>T	NP_001335660.1:p.Phe1485=
NM_001348732.1:c.4452C>T	NP_001335661.1:p.Phe1484=
NM_001348734.1:c.4341C>T	NP_001335663.1:p.Phe1447=
NM_001348735.1:c.4338C>T	NP_001335664.1:p.Phe1446=
NM_001348736.1:c.4212C>T	NP_001335665.1:p.Phe1404=
NM_001348738.1:c.3996+1917C>T	NP_001335667.1:n.3996+1917C>T
NM_001348739.1:c.3885+1917C>T	NP_001335668.1:n.3885+1917C>T
NM_001348740.1:c.3885+1917C>T	NP_001335669.1:n.3885+1917C>T
NM_001348741.1:c.3882+1917C>T	NP_001335670.1:n.3882+1917C>T
NM_001348742.1:c.3882+1917C>T	NP_001335671.1:n.3882+1917C>T
NM_001348743.1:c.3882+1917C>T	NP_001335672.1:n.3882+1917C>T
NM_020738.3:c.4509C>T	NP_065789.1:p.Phe1503=
NR_145964.1:n.4252+1917C>T
NR_145965.1:n.4078+1917C>T
NM_001348729.2:c.4512C>T	NP_001335658.1:p.Phe1504=
NM_001348731.2:c.4455C>T	NP_001335660.1:p.Phe1485=
NM_001348732.2:c.4452C>T	NP_001335661.1:p.Phe1484=
NM_001348734.2:c.4341C>T	NP_001335663.1:p.Phe1447=
NM_001348735.2:c.4338C>T	NP_001335664.1:p.Phe1446=
NM_001348736.2:c.4212C>T	NP_001335665.1:p.Phe1404=
NM_001348738.2:c.3996+1917C>T	NP_001335667.1:n.3996+1917C>T
NM_001348739.2:c.3885+1917C>T	NP_001335668.1:n.3885+1917C>T
NM_001348740.2:c.3885+1917C>T	NP_001335669.1:n.3885+1917C>T
NM_001348741.2:c.3882+1917C>T	NP_001335670.1:n.3882+1917C>T
NM_001348742.2:c.3882+1917C>T	NP_001335671.1:n.3882+1917C>T
NM_001348743.2:c.3882+1917C>T	NP_001335672.1:n.3882+1917C>T
NM_020738.4:c.4509C>T MANE Select	NP_065789.1:p.Phe1503=
NR_145964.2:n.4226+1917C>T
NR_145965.2:n.4052+1917C>T