Canonical Allele Identifier: CA1519355

Gene: KIDINS220

Linked Data

• dbSNP Id: rs750306429
• ExAC: 2:8871650 C / T
• gnomAD v2: 2-8871650-C-T
• gnomAD v4: 2-8731520-C-T
• MyVariant Identifiers: chr2:g.8871650C>T (hg19) ; chr2:g.8731520C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.8731520C>T , CM000664.2:g.8731520C>T	GRCh38
NC_000002.11:g.8871650C>T , CM000664.1:g.8871650C>T	GRCh37
NC_000002.10:g.8789101C>T	NCBI36
NG_053168.1:g.111120G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000685097.1:c.4219G>A	ENSP00000510510.1:p.Asp1407Asn
ENST00000686383.1:n.4401G>A
ENST00000686906.1:c.*404G>A	ENSP00000508907.1:n.*404G>A
ENST00000687894.1:c.*1888G>A	ENSP00000509577.1:n.*1888G>A
ENST00000687912.1:c.4021G>A	ENSP00000508455.1:p.Asp1341Asn
ENST00000689369.1:c.3882+1924G>A	ENSP00000509856.1:n.3882+1924G>A
ENST00000689852.1:c.3915+1924G>A	ENSP00000510537.1:n.3915+1924G>A
ENST00000691030.1:c.4495G>A	ENSP00000510148.1:p.Asp1499Asn
ENST00000693394.1:c.3882+1924G>A	ENSP00000509014.1:n.3882+1924G>A
ENST00000693432.1:c.4053+1924G>A	ENSP00000510486.1:n.4053+1924G>A
ENST00000693597.1:n.861+1924G>A
ENST00000256707.8:c.4516G>A MANE Select	ENSP00000256707.4:p.Asp1506Asn
ENST00000569008.2:c.3882+1924G>A	ENSP00000491461.1:n.3882+1924G>A
ENST00000256707.7:c.4516G>A	ENSP00000256707.3:p.Asp1506Asn
ENST00000473731.5:c.4459G>A	ENSP00000418974.1:p.Asp1487Asn
ENST00000488729.5:c.*4405G>A	ENSP00000417390.1:n.*4405G>A
ENST00000496383.5:c.3123+1924G>A	ENSP00000420364.1:n.3123+1924G>A
NM_020738.2:c.4516G>A	NP_065789.1:p.Asp1506Asn
NM_001348729.1:c.4519G>A	NP_001335658.1:p.Asp1507Asn
NM_001348731.1:c.4462G>A	NP_001335660.1:p.Asp1488Asn
NM_001348732.1:c.4459G>A	NP_001335661.1:p.Asp1487Asn
NM_001348734.1:c.4348G>A	NP_001335663.1:p.Asp1450Asn
NM_001348735.1:c.4345G>A	NP_001335664.1:p.Asp1449Asn
NM_001348736.1:c.4219G>A	NP_001335665.1:p.Asp1407Asn
NM_001348738.1:c.3996+1924G>A	NP_001335667.1:n.3996+1924G>A
NM_001348739.1:c.3885+1924G>A	NP_001335668.1:n.3885+1924G>A
NM_001348740.1:c.3885+1924G>A	NP_001335669.1:n.3885+1924G>A
NM_001348741.1:c.3882+1924G>A	NP_001335670.1:n.3882+1924G>A
NM_001348742.1:c.3882+1924G>A	NP_001335671.1:n.3882+1924G>A
NM_001348743.1:c.3882+1924G>A	NP_001335672.1:n.3882+1924G>A
NM_020738.3:c.4516G>A	NP_065789.1:p.Asp1506Asn
NR_145964.1:n.4252+1924G>A
NR_145965.1:n.4078+1924G>A
NM_001348729.2:c.4519G>A	NP_001335658.1:p.Asp1507Asn
NM_001348731.2:c.4462G>A	NP_001335660.1:p.Asp1488Asn
NM_001348732.2:c.4459G>A	NP_001335661.1:p.Asp1487Asn
NM_001348734.2:c.4348G>A	NP_001335663.1:p.Asp1450Asn
NM_001348735.2:c.4345G>A	NP_001335664.1:p.Asp1449Asn
NM_001348736.2:c.4219G>A	NP_001335665.1:p.Asp1407Asn
NM_001348738.2:c.3996+1924G>A	NP_001335667.1:n.3996+1924G>A
NM_001348739.2:c.3885+1924G>A	NP_001335668.1:n.3885+1924G>A
NM_001348740.2:c.3885+1924G>A	NP_001335669.1:n.3885+1924G>A
NM_001348741.2:c.3882+1924G>A	NP_001335670.1:n.3882+1924G>A
NM_001348742.2:c.3882+1924G>A	NP_001335671.1:n.3882+1924G>A
NM_001348743.2:c.3882+1924G>A	NP_001335672.1:n.3882+1924G>A
NM_020738.4:c.4516G>A MANE Select	NP_065789.1:p.Asp1506Asn
NR_145964.2:n.4226+1924G>A
NR_145965.2:n.4052+1924G>A