Canonical Allele Identifier: CA374350915
Gene: GABBR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2803969
ClinVar RCV Id: RCV003755329
dbSNP Id: rs1214384447
gnomAD v3: 9-98541913-C-A
gnomAD v4: 9-98541913-C-A
MyVariant Identifiers: chr9:g.101304195C>A (hg19) chr9:g.98541913C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98541913C>A , CM000671.2:g.98541913C>A GRCh38
NC_000009.11:g.101304195C>A , CM000671.1:g.101304195C>A GRCh37
NC_000009.10:g.100344016C>A NCBI36
NG_016426.1:g.172285G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.590G>T MANE Select ENSP00000259455.2:p.Arg197Leu
ENST00000637410.1:n.368G>T
ENST00000637717.1:c.206G>T ENSP00000490789.1:p.Arg69Leu
ENST00000259455.3:c.590G>T ENSP00000259455.2:p.Arg197Leu
ENST00000477471.1:n.377G>T
ENST00000634227.1:n.364G>T
NM_005458.7:c.590G>T NP_005449.5:p.Arg197Leu
XM_017015331.2:c.296G>T XP_016870820.1:p.Arg99Leu
NM_005458.8:c.590G>T MANE Select NP_005449.5:p.Arg197Leu
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