Canonical Allele Identifier: CA374351085
Gene: GABBR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.101304268A>G (hg19) chr9:g.98541986A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98541986A>G , CM000671.2:g.98541986A>G GRCh38
NC_000009.11:g.101304268A>G , CM000671.1:g.101304268A>G GRCh37
NC_000009.10:g.100344089A>G NCBI36
NG_016426.1:g.172212T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.517T>C MANE Select ENSP00000259455.2:p.Phe173Leu
ENST00000637410.1:n.295T>C
ENST00000637717.1:c.133T>C ENSP00000490789.1:p.Phe45Leu
ENST00000259455.3:c.517T>C ENSP00000259455.2:p.Phe173Leu
ENST00000477471.1:n.304T>C
ENST00000634227.1:n.291T>C
NM_005458.7:c.517T>C NP_005449.5:p.Phe173Leu
XM_017015331.2:c.223T>C XP_016870820.1:p.Phe75Leu
NM_005458.8:c.517T>C MANE Select NP_005449.5:p.Phe173Leu
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