Canonical Allele Identifier: CA5152951
Gene: GABBR2 HGNC NCBI

Linked Data

dbSNP Id: rs745446197
ExAC: 9:101304219 A / C
gnomAD v2: 9-101304219-A-C
gnomAD v4: 9-98541937-A-C
MyVariant Identifiers: chr9:g.101304219A>C (hg19) chr9:g.98541937A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98541937A>C , CM000671.2:g.98541937A>C GRCh38
NC_000009.11:g.101304219A>C , CM000671.1:g.101304219A>C GRCh37
NC_000009.10:g.100344040A>C NCBI36
NG_016426.1:g.172261T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.566T>G MANE Select ENSP00000259455.2:p.Leu189Trp
ENST00000637410.1:n.344T>G
ENST00000637717.1:c.182T>G ENSP00000490789.1:p.Leu61Trp
ENST00000259455.3:c.566T>G ENSP00000259455.2:p.Leu189Trp
ENST00000477471.1:n.353T>G
ENST00000634227.1:n.340T>G
NM_005458.7:c.566T>G NP_005449.5:p.Leu189Trp
XM_017015331.2:c.272T>G XP_016870820.1:p.Leu91Trp
NM_005458.8:c.566T>G MANE Select NP_005449.5:p.Leu189Trp
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