Canonical Allele Identifier: CA1596016642
Community Standard Title: NM_001371727.1(GABRB2):c.482T= (p.Met161=)
Gene: GABRB2 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_001371727.1:c.482T= MANE Select NP_001358656.1:p.Met161=
ENST00000393959.6:c.482T= MANE Select ENSP00000377531.1:p.Met161=
NM_000813.2:c.482T= NP_000804.1:p.Met161=
NM_000813.3:c.482T= NP_000804.1:p.Met161=
NM_021911.2:c.482T= NP_068711.1:p.Met161=
NM_021911.3:c.482T= NP_068711.1:p.Met161=
ENST00000274547.6:c.482T= ENSP00000274547.2:p.Met161=
ENST00000274547.7:c.482T= ENSP00000274547.2:p.Met161=
ENST00000353437.10:c.482T= ENSP00000274546.6:p.Met161=
ENST00000393959.5:c.482T= ENSP00000377531.1:p.Met161=
ENST00000517547.5:c.2T= ENSP00000429750.1:p.Met1=
ENST00000517901.5:c.293T= ENSP00000430532.1:p.Met98=
ENST00000520240.5:c.482T= ENSP00000429320.1:p.Met161=
ENST00000612710.1:c.293T= ENSP00000480066.1:p.Met98=
ENST00000674514.1:n.564T=
ENST00000675081.1:c.230T= ENSP00000502207.1:p.Met77=
ENST00000675303.1:c.482T= ENSP00000502748.1:p.Met161=
ENST00000675381.1:c.230T= ENSP00000501968.1:p.Met77=
ENST00000675773.1:c.482T= ENSP00000502701.1:p.Met161=