Canonical Allele Identifier: CA401339415
Gene: CBX2 HGNC NCBI

Linked Data

dbSNP Id: rs1555831308
gnomAD v2: 17-77758471-A-G
gnomAD v4: 17-79784672-A-G
MyVariant Identifiers: chr17:g.77758471A>G (hg19) chr17:g.79784672A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.79784672A>G , CM000679.2:g.79784672A>G GRCh38
NC_000017.10:g.77758471A>G , CM000679.1:g.77758471A>G GRCh37
NC_000017.9:g.75373066A>G NCBI36
NG_016986.1:g.11495A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000310942.9:c.1229A>G MANE Select ENSP00000308750.4:p.Lys410Arg
ENST00000310942.8:c.1229A>G ENSP00000308750.4:p.Lys410Arg
NM_005189.2:c.1229A>G NP_005180.1:p.Lys410Arg
XM_011525382.1:c.1229A>G XP_011523684.1:p.Lys410Arg
XM_011525383.1:c.974A>G XP_011523685.1:p.Lys325Arg
XM_011525383.2:c.974A>G XP_011523685.1:p.Lys325Arg
NM_005189.3:c.1229A>G MANE Select NP_005180.1:p.Lys410Arg
Search 100 bp 5'
Search 100 bp 3'