Canonical Allele Identifier: CA362172245

Gene: GABRB2

Linked Data

• MyVariant Identifiers: chr5:g.160838040A>T (hg19) ; chr5:g.161411034A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274547.7:c.482T>A	ENSP00000274547.2:p.Met161Lys
ENST00000393959.6:c.482T>A MANE Select	ENSP00000377531.1:p.Met161Lys
ENST00000674514.1:n.564T>A
ENST00000675081.1:c.230T>A	ENSP00000502207.1:p.Met77Lys
ENST00000675303.1:c.482T>A	ENSP00000502748.1:p.Met161Lys
ENST00000675381.1:c.230T>A	ENSP00000501968.1:p.Met77Lys
ENST00000675773.1:c.482T>A	ENSP00000502701.1:p.Met161Lys
ENST00000274547.6:c.482T>A	ENSP00000274547.2:p.Met161Lys
ENST00000353437.10:c.482T>A	ENSP00000274546.6:p.Met161Lys
ENST00000393959.5:c.482T>A	ENSP00000377531.1:p.Met161Lys
ENST00000517547.5:c.2T>A	ENSP00000429750.1:p.Met1Lys
ENST00000517901.5:c.293T>A	ENSP00000430532.1:p.Met98Lys
ENST00000520240.5:c.482T>A	ENSP00000429320.1:p.Met161Lys
ENST00000612710.1:c.293T>A	ENSP00000480066.1:p.Met98Lys
NM_000813.2:c.482T>A	NP_000804.1:p.Met161Lys
NM_021911.2:c.482T>A	NP_068711.1:p.Met161Lys
NM_000813.3:c.482T>A	NP_000804.1:p.Met161Lys
NM_001371727.1:c.482T>A MANE Select	NP_001358656.1:p.Met161Lys
NM_021911.3:c.482T>A	NP_068711.1:p.Met161Lys