Canonical Allele Identifier: CA374350917
Gene: GABBR2 HGNC NCBI

Linked Data

dbSNP Id: rs1214384447
gnomAD v2: 9-101304195-C-T
gnomAD v3: 9-98541913-C-T
gnomAD v4: 9-98541913-C-T
MyVariant Identifiers: chr9:g.101304195C>T (hg19) chr9:g.98541913C>T (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.590G>A MANE Select ENSP00000259455.2:p.Arg197His
ENST00000637410.1:n.368G>A
ENST00000637717.1:c.206G>A ENSP00000490789.1:p.Arg69His
ENST00000259455.3:c.590G>A ENSP00000259455.2:p.Arg197His
ENST00000477471.1:n.377G>A
ENST00000634227.1:n.364G>A
NM_005458.7:c.590G>A NP_005449.5:p.Arg197His
XM_017015331.2:c.296G>A XP_016870820.1:p.Arg99His
NM_005458.8:c.590G>A MANE Select NP_005449.5:p.Arg197His
Search 100 bp 5'
Search 100 bp 3'