Canonical Allele Identifier: CA374351096
Gene: GABBR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98541990A>T , CM000671.2:g.98541990A>T GRCh38
NC_000009.11:g.101304272A>T , CM000671.1:g.101304272A>T GRCh37
NC_000009.10:g.100344093A>T NCBI36
NG_016426.1:g.172208T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.513T>A MANE Select ENSP00000259455.2:p.Tyr171Ter
ENST00000637410.1:n.291T>A
ENST00000637717.1:c.129T>A ENSP00000490789.1:p.Tyr43Ter
ENST00000259455.3:c.513T>A ENSP00000259455.2:p.Tyr171Ter
ENST00000477471.1:n.300T>A
ENST00000634227.1:n.287T>A
NM_005458.7:c.513T>A NP_005449.5:p.Tyr171Ter
XM_017015331.2:c.219T>A XP_016870820.1:p.Tyr73Ter
NM_005458.8:c.513T>A MANE Select NP_005449.5:p.Tyr171Ter