Canonical Allele Identifier: CA466527024
Gene: GABBR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2037676
ClinVar RCV Id: RCV002885951
dbSNP Id: rs1259050260
gnomAD v3: 9-98541990-A-G
gnomAD v4: 9-98541990-A-G
MyVariant Identifiers: chr9:g.101304272A>G (hg19) chr9:g.98541990A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98541990A>G , CM000671.2:g.98541990A>G GRCh38
NC_000009.11:g.101304272A>G , CM000671.1:g.101304272A>G GRCh37
NC_000009.10:g.100344093A>G NCBI36
NG_016426.1:g.172208T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.513T>C MANE Select ENSP00000259455.2:p.Tyr171=
ENST00000637410.1:n.291T>C
ENST00000637717.1:c.129T>C ENSP00000490789.1:p.Tyr43=
ENST00000259455.3:c.513T>C ENSP00000259455.2:p.Tyr171=
ENST00000477471.1:n.300T>C
ENST00000634227.1:n.287T>C
NM_005458.7:c.513T>C NP_005449.5:p.Tyr171=
XM_017015331.2:c.219T>C XP_016870820.1:p.Tyr73=
NM_005458.8:c.513T>C MANE Select NP_005449.5:p.Tyr171=
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