Canonical Allele Identifier: CA8811453
Gene: CBX2 HGNC NCBI

Linked Data

dbSNP Id: rs187278438
ExAC: 17:77758474 G / C
gnomAD v2: 17-77758474-G-C
gnomAD v3: 17-79784675-G-C
gnomAD v4: 17-79784675-G-C
MyVariant Identifiers: chr17:g.77758474G>C (hg19) chr17:g.79784675G>C (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000310942.9:c.1232G>C MANE Select ENSP00000308750.4:p.Ser411Thr
ENST00000310942.8:c.1232G>C ENSP00000308750.4:p.Ser411Thr
NM_005189.2:c.1232G>C NP_005180.1:p.Ser411Thr
XM_011525382.1:c.1232G>C XP_011523684.1:p.Ser411Thr
XM_011525383.1:c.977G>C XP_011523685.1:p.Ser326Thr
XM_011525383.2:c.977G>C XP_011523685.1:p.Ser326Thr
NM_005189.3:c.1232G>C MANE Select NP_005180.1:p.Ser411Thr
Search 100 bp 5'
Search 100 bp 3'