Canonical Allele Identifier: CA1519358

Gene: KIDINS220

Linked Data

• dbSNP Id: rs751238436
• ExAC: 2:8871659 A / G
• gnomAD v2: 2-8871659-A-G
• gnomAD v4: 2-8731529-A-G
• MyVariant Identifiers: chr2:g.8871659A>G (hg19) ; chr2:g.8731529A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.8731529A>G , CM000664.2:g.8731529A>G	GRCh38
NC_000002.11:g.8871659A>G , CM000664.1:g.8871659A>G	GRCh37
NC_000002.10:g.8789110A>G	NCBI36
NG_053168.1:g.111111T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000685097.1:c.4210T>C	ENSP00000510510.1:p.Phe1404Leu
ENST00000686383.1:n.4392T>C
ENST00000686906.1:c.*395T>C	ENSP00000508907.1:n.*395T>C
ENST00000687894.1:c.*1879T>C	ENSP00000509577.1:n.*1879T>C
ENST00000687912.1:c.4012T>C	ENSP00000508455.1:p.Phe1338Leu
ENST00000689369.1:c.3882+1915T>C	ENSP00000509856.1:n.3882+1915T>C
ENST00000689852.1:c.3915+1915T>C	ENSP00000510537.1:n.3915+1915T>C
ENST00000691030.1:c.4486T>C	ENSP00000510148.1:p.Phe1496Leu
ENST00000693394.1:c.3882+1915T>C	ENSP00000509014.1:n.3882+1915T>C
ENST00000693432.1:c.4053+1915T>C	ENSP00000510486.1:n.4053+1915T>C
ENST00000693597.1:n.861+1915T>C
ENST00000256707.8:c.4507T>C MANE Select	ENSP00000256707.4:p.Phe1503Leu
ENST00000569008.2:c.3882+1915T>C	ENSP00000491461.1:n.3882+1915T>C
ENST00000256707.7:c.4507T>C	ENSP00000256707.3:p.Phe1503Leu
ENST00000473731.5:c.4450T>C	ENSP00000418974.1:p.Phe1484Leu
ENST00000488729.5:c.*4396T>C	ENSP00000417390.1:n.*4396T>C
ENST00000496383.5:c.3123+1915T>C	ENSP00000420364.1:n.3123+1915T>C
NM_020738.2:c.4507T>C	NP_065789.1:p.Phe1503Leu
NM_001348729.1:c.4510T>C	NP_001335658.1:p.Phe1504Leu
NM_001348731.1:c.4453T>C	NP_001335660.1:p.Phe1485Leu
NM_001348732.1:c.4450T>C	NP_001335661.1:p.Phe1484Leu
NM_001348734.1:c.4339T>C	NP_001335663.1:p.Phe1447Leu
NM_001348735.1:c.4336T>C	NP_001335664.1:p.Phe1446Leu
NM_001348736.1:c.4210T>C	NP_001335665.1:p.Phe1404Leu
NM_001348738.1:c.3996+1915T>C	NP_001335667.1:n.3996+1915T>C
NM_001348739.1:c.3885+1915T>C	NP_001335668.1:n.3885+1915T>C
NM_001348740.1:c.3885+1915T>C	NP_001335669.1:n.3885+1915T>C
NM_001348741.1:c.3882+1915T>C	NP_001335670.1:n.3882+1915T>C
NM_001348742.1:c.3882+1915T>C	NP_001335671.1:n.3882+1915T>C
NM_001348743.1:c.3882+1915T>C	NP_001335672.1:n.3882+1915T>C
NM_020738.3:c.4507T>C	NP_065789.1:p.Phe1503Leu
NR_145964.1:n.4252+1915T>C
NR_145965.1:n.4078+1915T>C
NM_001348729.2:c.4510T>C	NP_001335658.1:p.Phe1504Leu
NM_001348731.2:c.4453T>C	NP_001335660.1:p.Phe1485Leu
NM_001348732.2:c.4450T>C	NP_001335661.1:p.Phe1484Leu
NM_001348734.2:c.4339T>C	NP_001335663.1:p.Phe1447Leu
NM_001348735.2:c.4336T>C	NP_001335664.1:p.Phe1446Leu
NM_001348736.2:c.4210T>C	NP_001335665.1:p.Phe1404Leu
NM_001348738.2:c.3996+1915T>C	NP_001335667.1:n.3996+1915T>C
NM_001348739.2:c.3885+1915T>C	NP_001335668.1:n.3885+1915T>C
NM_001348740.2:c.3885+1915T>C	NP_001335669.1:n.3885+1915T>C
NM_001348741.2:c.3882+1915T>C	NP_001335670.1:n.3882+1915T>C
NM_001348742.2:c.3882+1915T>C	NP_001335671.1:n.3882+1915T>C
NM_001348743.2:c.3882+1915T>C	NP_001335672.1:n.3882+1915T>C
NM_020738.4:c.4507T>C MANE Select	NP_065789.1:p.Phe1503Leu
NR_145964.2:n.4226+1915T>C
NR_145965.2:n.4052+1915T>C