Canonical Allele Identifier: CA362173219

Gene: GABRB2

Linked Data

• COSMIC: COSM5011546 ; COSM5011547
• MyVariant Identifiers: chr5:g.160721223C>G (hg19) ; chr5:g.161294216C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161294216C>G , CM000667.2:g.161294216C>G	GRCh38
NC_000005.9:g.160721223C>G , CM000667.1:g.160721223C>G	GRCh37
NC_000005.8:g.160653801C>G	NCBI36
NG_047050.1:g.258909G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000274547.7:c.1404G>C	ENSP00000274547.2:p.Arg468Ser
ENST00000393959.6:c.1404G>C MANE Select	ENSP00000377531.1:p.Arg468Ser
ENST00000675081.1:c.*749G>C	ENSP00000502207.1:n.*749G>C
ENST00000675303.1:c.1290G>C	ENSP00000502748.1:p.Arg430Ser
ENST00000675381.1:c.1038G>C	ENSP00000501968.1:p.Arg346Ser
ENST00000675746.1:c.540G>C	ENSP00000502391.1:p.Arg180Ser
ENST00000675773.1:c.1290G>C	ENSP00000502701.1:p.Arg430Ser
ENST00000274547.6:c.1404G>C	ENSP00000274547.2:p.Arg468Ser
ENST00000353437.10:c.1290G>C	ENSP00000274546.6:p.Arg430Ser
ENST00000393959.5:c.1404G>C	ENSP00000377531.1:p.Arg468Ser
ENST00000517547.5:c.810G>C	ENSP00000429750.1:p.Arg270Ser
ENST00000517901.5:c.1101G>C	ENSP00000430532.1:p.Arg367Ser
ENST00000520240.5:c.1290G>C	ENSP00000429320.1:p.Arg430Ser
NM_000813.2:c.1290G>C	NP_000804.1:p.Arg430Ser
NM_021911.2:c.1404G>C	NP_068711.1:p.Arg468Ser
XM_011534501.1:c.654G>C	XP_011532803.1:p.Arg218Ser
NM_000813.3:c.1290G>C	NP_000804.1:p.Arg430Ser
NM_001371727.1:c.1404G>C MANE Select	NP_001358656.1:p.Arg468Ser
NM_021911.3:c.1404G>C	NP_068711.1:p.Arg468Ser