Canonical Allele Identifier: CA5152941
Gene: GABBR2 HGNC NCBI

Linked Data

dbSNP Id: rs766659428
ExAC: 9:101304158 A / G
COSMIC: COSM4629593
MyVariant Identifiers: chr9:g.101304158A>G (hg19) chr9:g.98541876A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98541876A>G , CM000671.2:g.98541876A>G GRCh38
NC_000009.11:g.101304158A>G , CM000671.1:g.101304158A>G GRCh37
NC_000009.10:g.100343979A>G NCBI36
NG_016426.1:g.172322T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.627T>C MANE Select ENSP00000259455.2:p.Ser209=
ENST00000637410.1:n.405T>C
ENST00000259455.3:c.627T>C ENSP00000259455.2:p.Ser209=
ENST00000477471.1:n.414T>C
ENST00000634227.1:n.401T>C
NM_005458.7:c.627T>C NP_005449.5:p.Ser209=
XM_017015331.2:c.333T>C XP_016870820.1:p.Ser111=
NM_005458.8:c.627T>C MANE Select NP_005449.5:p.Ser209=
Search 100 bp 5'
Search 100 bp 3'