Canonical Allele Identifier: CA374349968
Gene: GABBR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2874241
ClinVar RCV Id: RCV003756039
gnomAD v4: 9-98577940-C-G
MyVariant Identifiers: chr9:g.101340222C>G (hg19) chr9:g.98577940C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98577940C>G , CM000671.2:g.98577940C>G GRCh38
NC_000009.11:g.101340222C>G , CM000671.1:g.101340222C>G GRCh37
NC_000009.10:g.100380043C>G NCBI36
NG_016426.1:g.136258G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000259455.4:c.454G>C MANE Select ENSP00000259455.2:p.Val152Leu
ENST00000637410.1:n.232G>C
ENST00000637717.1:c.70G>C ENSP00000490789.1:p.Val24Leu
ENST00000259455.3:c.454G>C ENSP00000259455.2:p.Val152Leu
ENST00000634227.1:n.228G>C
NM_005458.7:c.454G>C NP_005449.5:p.Val152Leu
NM_005458.8:c.454G>C MANE Select NP_005449.5:p.Val152Leu
Search 100 bp 5'
Search 100 bp 3'