Canonical Allele Identifier: CA2695205635

Gene: GABRB2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161330972_161330974del , CM000667.2:g.161330972_161330974del	GRCh38
NC_000005.9:g.160757979_160757981del , CM000667.1:g.160757979_160757981del	GRCh37
NC_000005.8:g.160690557_160690559del	NCBI36
NG_047050.1:g.222155_222157del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274547.7:c.990_992del	ENSP00000274547.2:p.Phe331del
ENST00000393959.6:c.990_992del MANE Select	ENSP00000377531.1:p.Phe331del
ENST00000674514.1:n.1072_1074del
ENST00000675081.1:c.*449_*451del	ENSP00000502207.1:n.*449_*451del
ENST00000675303.1:c.990_992del	ENSP00000502748.1:p.Phe331del
ENST00000675381.1:c.738_740del	ENSP00000501968.1:p.Phe247del
ENST00000675746.1:c.240_242del	ENSP00000502391.1:p.Phe81del
ENST00000675773.1:c.990_992del	ENSP00000502701.1:p.Phe331del
ENST00000274547.6:c.990_992del	ENSP00000274547.2:p.Phe331del
ENST00000353437.10:c.990_992del	ENSP00000274546.6:p.Phe331del
ENST00000393959.5:c.990_992del	ENSP00000377531.1:p.Phe331del
ENST00000517547.5:c.510_512del	ENSP00000429750.1:p.Phe171del
ENST00000517901.5:c.801_803del	ENSP00000430532.1:p.Phe268del
ENST00000520240.5:c.990_992del	ENSP00000429320.1:p.Phe331del
ENST00000612710.1:c.801_803del	ENSP00000480066.1:p.Phe268del
NM_000813.2:c.990_992del	NP_000804.1:p.Phe331del
NM_021911.2:c.990_992del	NP_068711.1:p.Phe331del
XM_011534501.1:c.240_242del	XP_011532803.1:p.Phe81del
NM_000813.3:c.990_992del	NP_000804.1:p.Phe331del
NM_001371727.1:c.990_992del MANE Select	NP_001358656.1:p.Phe331del
NM_021911.3:c.990_992del	NP_068711.1:p.Phe331del