Canonical Allele Identifier: CA401339463
Gene: CBX2 HGNC NCBI

Linked Data

gnomAD v4: 17-79784677-G-A
MyVariant Identifiers: chr17:g.77758476G>A (hg19) chr17:g.79784677G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.79784677G>A , CM000679.2:g.79784677G>A GRCh38
NC_000017.10:g.77758476G>A , CM000679.1:g.77758476G>A GRCh37
NC_000017.9:g.75373071G>A NCBI36
NG_016986.1:g.11500G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000310942.9:c.1234G>A MANE Select ENSP00000308750.4:p.Glu412Lys
ENST00000310942.8:c.1234G>A ENSP00000308750.4:p.Glu412Lys
NM_005189.2:c.1234G>A NP_005180.1:p.Glu412Lys
XM_011525382.1:c.1234G>A XP_011523684.1:p.Glu412Lys
XM_011525383.1:c.979G>A XP_011523685.1:p.Glu327Lys
XM_011525383.2:c.979G>A XP_011523685.1:p.Glu327Lys
NM_005189.3:c.1234G>A MANE Select NP_005180.1:p.Glu412Lys
Search 100 bp 5'
Search 100 bp 3'