Canonical Allele Identifier: CA401339453
Gene: CBX2 HGNC NCBI

Linked Data

gnomAD v4: 17-79784676-T-G
MyVariant Identifiers: chr17:g.77758475T>G (hg19) chr17:g.79784676T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.79784676T>G , CM000679.2:g.79784676T>G GRCh38
NC_000017.10:g.77758475T>G , CM000679.1:g.77758475T>G GRCh37
NC_000017.9:g.75373070T>G NCBI36
NG_016986.1:g.11499T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000310942.9:c.1233T>G MANE Select ENSP00000308750.4:p.Ser411Arg
ENST00000310942.8:c.1233T>G ENSP00000308750.4:p.Ser411Arg
NM_005189.2:c.1233T>G NP_005180.1:p.Ser411Arg
XM_011525382.1:c.1233T>G XP_011523684.1:p.Ser411Arg
XM_011525383.1:c.978T>G XP_011523685.1:p.Ser326Arg
XM_011525383.2:c.978T>G XP_011523685.1:p.Ser326Arg
NM_005189.3:c.1233T>G MANE Select NP_005180.1:p.Ser411Arg
Search 100 bp 5'
Search 100 bp 3'