Canonical Allele Identifier: CA374351119
Gene: GABBR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98542000T>C , CM000671.2:g.98542000T>C GRCh38
NC_000009.11:g.101304282T>C , CM000671.1:g.101304282T>C GRCh37
NC_000009.10:g.100344103T>C NCBI36
NG_016426.1:g.172198A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.503A>G MANE Select ENSP00000259455.2:p.Lys168Arg
ENST00000637410.1:n.281A>G
ENST00000637717.1:c.119A>G ENSP00000490789.1:p.Lys40Arg
ENST00000259455.3:c.503A>G ENSP00000259455.2:p.Lys168Arg
ENST00000477471.1:n.290A>G
ENST00000634227.1:n.277A>G
NM_005458.7:c.503A>G NP_005449.5:p.Lys168Arg
XM_017015331.2:c.209A>G XP_016870820.1:p.Lys70Arg
NM_005458.8:c.503A>G MANE Select NP_005449.5:p.Lys168Arg