Canonical Allele Identifier: CA5152959
Gene: GABBR2 HGNC NCBI

Linked Data

dbSNP Id: rs751788690
ExAC: 9:101304298 G / A
gnomAD v2: 9-101304298-G-A
gnomAD v4: 9-98542016-G-A
MyVariant Identifiers: chr9:g.101304298G>A (hg19) chr9:g.98542016G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98542016G>A , CM000671.2:g.98542016G>A GRCh38
NC_000009.11:g.101304298G>A , CM000671.1:g.101304298G>A GRCh37
NC_000009.10:g.100344119G>A NCBI36
NG_016426.1:g.172182C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.487C>T MANE Select ENSP00000259455.2:p.Leu163=
ENST00000637410.1:n.265C>T
ENST00000637717.1:c.103C>T ENSP00000490789.1:p.Leu35=
ENST00000638001.1:n.97C>T
ENST00000259455.3:c.487C>T ENSP00000259455.2:p.Leu163=
ENST00000477471.1:n.274C>T
ENST00000634227.1:n.261C>T
NM_005458.7:c.487C>T NP_005449.5:p.Leu163=
XM_017015331.2:c.193C>T XP_016870820.1:p.Leu65=
NM_005458.8:c.487C>T MANE Select NP_005449.5:p.Leu163=
Search 100 bp 5'
Search 100 bp 3'