Canonical Allele Identifier: CA401339445
Gene: CBX2 HGNC NCBI

Linked Data

dbSNP Id: rs187278438
gnomAD v4: 17-79784675-G-A
MyVariant Identifiers: chr17:g.77758474G>A (hg19) chr17:g.79784675G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.79784675G>A , CM000679.2:g.79784675G>A GRCh38
NC_000017.10:g.77758474G>A , CM000679.1:g.77758474G>A GRCh37
NC_000017.9:g.75373069G>A NCBI36
NG_016986.1:g.11498G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000310942.9:c.1232G>A MANE Select ENSP00000308750.4:p.Ser411Asn
ENST00000310942.8:c.1232G>A ENSP00000308750.4:p.Ser411Asn
NM_005189.2:c.1232G>A NP_005180.1:p.Ser411Asn
XM_011525382.1:c.1232G>A XP_011523684.1:p.Ser411Asn
XM_011525383.1:c.977G>A XP_011523685.1:p.Ser326Asn
XM_011525383.2:c.977G>A XP_011523685.1:p.Ser326Asn
NM_005189.3:c.1232G>A MANE Select NP_005180.1:p.Ser411Asn
Search 100 bp 5'
Search 100 bp 3'