Canonical Allele Identifier: CA401339481
Gene: CBX2 HGNC NCBI

Linked Data

gnomAD v4: 17-79784679-G-C
MyVariant Identifiers: chr17:g.77758478G>C (hg19) chr17:g.79784679G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.79784679G>C , CM000679.2:g.79784679G>C GRCh38
NC_000017.10:g.77758478G>C , CM000679.1:g.77758478G>C GRCh37
NC_000017.9:g.75373073G>C NCBI36
NG_016986.1:g.11502G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000310942.9:c.1236G>C MANE Select ENSP00000308750.4:p.Glu412Asp
ENST00000310942.8:c.1236G>C ENSP00000308750.4:p.Glu412Asp
NM_005189.2:c.1236G>C NP_005180.1:p.Glu412Asp
XM_011525382.1:c.1236G>C XP_011523684.1:p.Glu412Asp
XM_011525383.1:c.981G>C XP_011523685.1:p.Glu327Asp
XM_011525383.2:c.981G>C XP_011523685.1:p.Glu327Asp
NM_005189.3:c.1236G>C MANE Select NP_005180.1:p.Glu412Asp
Search 100 bp 5'
Search 100 bp 3'