Canonical Allele Identifier: CA8811455
Gene: CBX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1600439
ClinVar RCV Id: RCV002132360
dbSNP Id: rs3751956
ExAC: 17:77758484 G / A
gnomAD v2: 17-77758484-G-A
gnomAD v3: 17-79784685-G-A
gnomAD v4: 17-79784685-G-A
MyVariant Identifiers: chr17:g.77758484G>A (hg19) chr17:g.79784685G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.79784685G>A , CM000679.2:g.79784685G>A GRCh38
NC_000017.10:g.77758484G>A , CM000679.1:g.77758484G>A GRCh37
NC_000017.9:g.75373079G>A NCBI36
NG_016986.1:g.11508G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000310942.9:c.1242G>A MANE Select ENSP00000308750.4:p.Leu414=
ENST00000310942.8:c.1242G>A ENSP00000308750.4:p.Leu414=
NM_005189.2:c.1242G>A NP_005180.1:p.Leu414=
XM_011525382.1:c.1242G>A XP_011523684.1:p.Leu414=
XM_011525383.1:c.987G>A XP_011523685.1:p.Leu329=
XM_011525383.2:c.987G>A XP_011523685.1:p.Leu329=
NM_005189.3:c.1242G>A MANE Select NP_005180.1:p.Leu414=
Search 100 bp 5'
Search 100 bp 3'