Canonical Allele Identifier: CA362175478

Gene: GABRB2

Linked Data

• MyVariant Identifiers: chr5:g.160758112C>T (hg19) ; chr5:g.161331105C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161331105C>T , CM000667.2:g.161331105C>T	GRCh38
NC_000005.9:g.160758112C>T , CM000667.1:g.160758112C>T	GRCh37
NC_000005.8:g.160690690C>T	NCBI36
NG_047050.1:g.222020G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274547.7:c.855G>A	ENSP00000274547.2:p.Met285Ile
ENST00000393959.6:c.855G>A MANE Select	ENSP00000377531.1:p.Met285Ile
ENST00000674514.1:n.937G>A
ENST00000675081.1:c.*314G>A	ENSP00000502207.1:n.*314G>A
ENST00000675303.1:c.855G>A	ENSP00000502748.1:p.Met285Ile
ENST00000675381.1:c.603G>A	ENSP00000501968.1:p.Met201Ile
ENST00000675746.1:c.105G>A	ENSP00000502391.1:p.Met35Ile
ENST00000675773.1:c.855G>A	ENSP00000502701.1:p.Met285Ile
ENST00000274547.6:c.855G>A	ENSP00000274547.2:p.Met285Ile
ENST00000353437.10:c.855G>A	ENSP00000274546.6:p.Met285Ile
ENST00000393959.5:c.855G>A	ENSP00000377531.1:p.Met285Ile
ENST00000517547.5:c.375G>A	ENSP00000429750.1:p.Met125Ile
ENST00000517901.5:c.666G>A	ENSP00000430532.1:p.Met222Ile
ENST00000520240.5:c.855G>A	ENSP00000429320.1:p.Met285Ile
ENST00000612710.1:c.666G>A	ENSP00000480066.1:p.Met222Ile
NM_000813.2:c.855G>A	NP_000804.1:p.Met285Ile
NM_021911.2:c.855G>A	NP_068711.1:p.Met285Ile
XM_011534501.1:c.105G>A	XP_011532803.1:p.Met35Ile
NM_000813.3:c.855G>A	NP_000804.1:p.Met285Ile
NM_001371727.1:c.855G>A MANE Select	NP_001358656.1:p.Met285Ile
NM_021911.3:c.855G>A	NP_068711.1:p.Met285Ile