Canonical Allele Identifier: CA294804380
Gene: CBX2 HGNC NCBI

Linked Data

dbSNP Id: rs893794222
gnomAD v3: 17-79784680-A-G
gnomAD v4: 17-79784680-A-G
MyVariant Identifiers: chr17:g.77758479A>G (hg19) chr17:g.79784680A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.79784680A>G , CM000679.2:g.79784680A>G GRCh38
NC_000017.10:g.77758479A>G , CM000679.1:g.77758479A>G GRCh37
NC_000017.9:g.75373074A>G NCBI36
NG_016986.1:g.11503A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000310942.9:c.1237A>G MANE Select ENSP00000308750.4:p.Lys413Glu
ENST00000310942.8:c.1237A>G ENSP00000308750.4:p.Lys413Glu
NM_005189.2:c.1237A>G NP_005180.1:p.Lys413Glu
XM_011525382.1:c.1237A>G XP_011523684.1:p.Lys413Glu
XM_011525383.1:c.982A>G XP_011523685.1:p.Lys328Glu
XM_011525383.2:c.982A>G XP_011523685.1:p.Lys328Glu
NM_005189.3:c.1237A>G MANE Select NP_005180.1:p.Lys413Glu
Search 100 bp 5'
Search 100 bp 3'