Canonical Allele Identifier: CA374351207
Gene: GABBR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98542042A>G , CM000671.2:g.98542042A>G GRCh38
NC_000009.11:g.101304324A>G , CM000671.1:g.101304324A>G GRCh37
NC_000009.10:g.100344145A>G NCBI36
NG_016426.1:g.172156T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.461T>C MANE Select ENSP00000259455.2:p.Leu154Pro
ENST00000637410.1:n.239T>C
ENST00000637717.1:c.77T>C ENSP00000490789.1:p.Leu26Pro
ENST00000638001.1:n.71T>C
ENST00000259455.3:c.461T>C ENSP00000259455.2:p.Leu154Pro
ENST00000477471.1:n.248T>C
ENST00000634227.1:n.235T>C
NM_005458.7:c.461T>C NP_005449.5:p.Leu154Pro
XM_017015331.2:c.167T>C XP_016870820.1:p.Leu56Pro
NM_005458.8:c.461T>C MANE Select NP_005449.5:p.Leu154Pro