Canonical Allele Identifier: CA347835
Gene: CHD2 HGNC NCBI

Linked Data

dbSNP Id: rs864309536
gnomAD v4: 15-92949077-G-A
MyVariant Identifiers: chr15:g.93492307G>A (hg19) chr15:g.92949077G>A (hg38)
PubMed: PMID:23934111 PMID:26677509
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.92949077G>A , CM000677.2:g.92949077G>A GRCh38
NC_000015.9:g.93492307G>A , CM000677.1:g.93492307G>A GRCh37
NC_000015.8:g.91293311G>A NCBI36
NG_012826.1:g.53757G>A
NG_012826.2:g.53757G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000625662.3:c.1009+1G>A
ENST00000628118.2:c.450+1G>A
ENST00000700550.1:c.1502+1G>A ENSP00000515056.1:n.1502+1G>A
ENST00000700551.1:c.*333+1G>A ENSP00000515057.1:n.*333+1G>A
ENST00000394196.9:c.1502+1G>A MANE Select ENSP00000377747.4:n.1502+1G>A
ENST00000420239.7:c.1503G>A ENSP00000406581.2:p.Lys501=
ENST00000625990.3:c.1208+1G>A ENSP00000485890.2:n.1208+1G>A
ENST00000635856.1:n.2074+1G>A
ENST00000636881.1:c.873+1G>A
ENST00000637572.1:n.1483+1G>A
ENST00000637613.1:c.835G>A ENSP00000489976.1:n.835G>A
ENST00000394196.8:c.1502+1G>A ENSP00000377747.4:n.1502+1G>A
ENST00000420239.6:c.1503G>A ENSP00000406581.2:p.Lys501=
ENST00000626782.2:c.1542G>A ENSP00000486487.1:p.Lys514=
ENST00000626874.2:c.1502+1G>A ENSP00000486629.1:n.1502+1G>A
ENST00000630016.1:c.455G>A
ENST00000630790.1:n.4346G>A
NM_001042572.2:c.1503G>A NP_001036037.1:p.Lys501=
NM_001271.3:c.1502+1G>A NP_001262.3:n.1502+1G>A
NM_001271.4:c.1502+1G>A MANE Select NP_001262.3:n.1502+1G>A
NM_001042572.3:c.1503G>A NP_001036037.1:p.Lys501=
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