Canonical Allele Identifier: CA401339527
Gene: CBX2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.77758482C>A (hg19) chr17:g.79784683C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.79784683C>A , CM000679.2:g.79784683C>A GRCh38
NC_000017.10:g.77758482C>A , CM000679.1:g.77758482C>A GRCh37
NC_000017.9:g.75373077C>A NCBI36
NG_016986.1:g.11506C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000310942.9:c.1240C>A MANE Select ENSP00000308750.4:p.Leu414Met
ENST00000310942.8:c.1240C>A ENSP00000308750.4:p.Leu414Met
NM_005189.2:c.1240C>A NP_005180.1:p.Leu414Met
XM_011525382.1:c.1240C>A XP_011523684.1:p.Leu414Met
XM_011525383.1:c.985C>A XP_011523685.1:p.Leu329Met
XM_011525383.2:c.985C>A XP_011523685.1:p.Leu329Met
NM_005189.3:c.1240C>A MANE Select NP_005180.1:p.Leu414Met
Search 100 bp 5'
Search 100 bp 3'