Canonical Allele Identifier: CA466527272
Gene: GABBR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.101340336A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98578054A>G , CM000671.2:g.98578054A>G GRCh38
NC_000009.11:g.101340336A>G , CM000671.1:g.101340336A>G GRCh37
NC_000009.10:g.100380157A>G NCBI36
NG_016426.1:g.136144T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.340T>C MANE Select ENSP00000259455.2:p.Leu114=
ENST00000637410.1:n.118T>C
ENST00000637717.1:c.-45T>C ENSP00000490789.1:n.-45T>C
ENST00000259455.3:c.340T>C ENSP00000259455.2:p.Leu114=
ENST00000634227.1:n.114T>C
NM_005458.7:c.340T>C NP_005449.5:p.Leu114=
NM_005458.8:c.340T>C MANE Select NP_005449.5:p.Leu114=
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