Canonical Allele Identifier: CA374350224
Gene: GABBR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.101340336A>C (hg19) chr9:g.98578054A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98578054A>C , CM000671.2:g.98578054A>C GRCh38
NC_000009.11:g.101340336A>C , CM000671.1:g.101340336A>C GRCh37
NC_000009.10:g.100380157A>C NCBI36
NG_016426.1:g.136144T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.340T>G MANE Select ENSP00000259455.2:p.Leu114Val
ENST00000637410.1:n.118T>G
ENST00000637717.1:c.-45T>G ENSP00000490789.1:n.-45T>G
ENST00000259455.3:c.340T>G ENSP00000259455.2:p.Leu114Val
ENST00000634227.1:n.114T>G
NM_005458.7:c.340T>G NP_005449.5:p.Leu114Val
NM_005458.8:c.340T>G MANE Select NP_005449.5:p.Leu114Val
Search 100 bp 5'
Search 100 bp 3'