Canonical Allele Identifier: CA16604729
Gene: GABRB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 384523
dbSNP Id: rs1057521979

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.161411034A>G , CM000667.2:g.161411034A>G GRCh38
NC_000005.9:g.160838040A>G , CM000667.1:g.160838040A>G GRCh37
NC_000005.8:g.160770618A>G NCBI36
NG_047050.1:g.142091T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000274547.7:c.482T>C ENSP00000274547.2:p.Met161Thr
ENST00000393959.6:c.482T>C MANE Select ENSP00000377531.1:p.Met161Thr
ENST00000674514.1:n.564T>C
ENST00000675081.1:c.230T>C ENSP00000502207.1:p.Met77Thr
ENST00000675303.1:c.482T>C ENSP00000502748.1:p.Met161Thr
ENST00000675381.1:c.230T>C ENSP00000501968.1:p.Met77Thr
ENST00000675773.1:c.482T>C ENSP00000502701.1:p.Met161Thr
ENST00000274547.6:c.482T>C ENSP00000274547.2:p.Met161Thr
ENST00000353437.10:c.482T>C ENSP00000274546.6:p.Met161Thr
ENST00000393959.5:c.482T>C ENSP00000377531.1:p.Met161Thr
ENST00000517547.5:c.2T>C ENSP00000429750.1:p.Met1Thr
ENST00000517901.5:c.293T>C ENSP00000430532.1:p.Met98Thr
ENST00000520240.5:c.482T>C ENSP00000429320.1:p.Met161Thr
ENST00000612710.1:c.293T>C ENSP00000480066.1:p.Met98Thr
NM_000813.2:c.482T>C NP_000804.1:p.Met161Thr
NM_021911.2:c.482T>C NP_068711.1:p.Met161Thr
NM_000813.3:c.482T>C NP_000804.1:p.Met161Thr
NM_001371727.1:c.482T>C MANE Select NP_001358656.1:p.Met161Thr
NM_021911.3:c.482T>C NP_068711.1:p.Met161Thr