Canonical Allele Identifier: CA806572879

Gene: GABRB2

Linked Data

• dbSNP Id: rs1163829932
• MyVariant Identifiers: chr5:g.160838235_160838236del (hg19) ; chr5:g.161411229_161411230del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161411230_161411231del , CM000667.2:g.161411230_161411231del	GRCh38
NC_000005.9:g.160838236_160838237del , CM000667.1:g.160838236_160838237del	GRCh37
NC_000005.8:g.160770814_160770815del	NCBI36
NG_047050.1:g.141895_141896del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274547.7:c.459-173_459-172del	ENSP00000274547.2:n.459-173_459-172del
ENST00000393959.6:c.459-173_459-172del MANE Select	ENSP00000377531.1:n.459-173_459-172del
ENST00000674514.1:n.541-173_541-172del
ENST00000675081.1:c.207-173_207-172del	ENSP00000502207.1:n.207-173_207-172del
ENST00000675303.1:c.459-173_459-172del	ENSP00000502748.1:n.459-173_459-172del
ENST00000675381.1:c.207-173_207-172del	ENSP00000501968.1:n.207-173_207-172del
ENST00000675773.1:c.459-173_459-172del	ENSP00000502701.1:n.459-173_459-172del
ENST00000274547.6:c.459-173_459-172del	ENSP00000274547.2:n.459-173_459-172del
ENST00000353437.10:c.459-173_459-172del	ENSP00000274546.6:n.459-173_459-172del
ENST00000393959.5:c.459-173_459-172del	ENSP00000377531.1:n.459-173_459-172del
ENST00000517547.5:c.-22-173_-22-172del	ENSP00000429750.1:n.-22-173_-22-172del
ENST00000517901.5:c.270-173_270-172del	ENSP00000430532.1:n.270-173_270-172del
ENST00000520240.5:c.459-173_459-172del	ENSP00000429320.1:n.459-173_459-172del
ENST00000612710.1:c.270-173_270-172del	ENSP00000480066.1:n.270-173_270-172del
NM_000813.2:c.459-173_459-172del	NP_000804.1:n.459-173_459-172del
NM_021911.2:c.459-173_459-172del	NP_068711.1:n.459-173_459-172del
NM_000813.3:c.459-173_459-172del	NP_000804.1:n.459-173_459-172del
NM_001371727.1:c.459-173_459-172del MANE Select	NP_001358656.1:n.459-173_459-172del
NM_021911.3:c.459-173_459-172del	NP_068711.1:n.459-173_459-172del