Canonical Allele Identifier: CA374351138
Gene: GABBR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98542007T>C , CM000671.2:g.98542007T>C GRCh38
NC_000009.11:g.101304289T>C , CM000671.1:g.101304289T>C GRCh37
NC_000009.10:g.100344110T>C NCBI36
NG_016426.1:g.172191A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.496A>G MANE Select ENSP00000259455.2:p.Lys166Glu
ENST00000637410.1:n.274A>G
ENST00000637717.1:c.112A>G ENSP00000490789.1:p.Lys38Glu
ENST00000259455.3:c.496A>G ENSP00000259455.2:p.Lys166Glu
ENST00000477471.1:n.283A>G
ENST00000634227.1:n.270A>G
NM_005458.7:c.496A>G NP_005449.5:p.Lys166Glu
XM_017015331.2:c.202A>G XP_016870820.1:p.Lys68Glu
NM_005458.8:c.496A>G MANE Select NP_005449.5:p.Lys166Glu