Canonical Allele Identifier: CA362175492

Gene: GABRB2

Linked Data

• ClinVar Variation Id: 973238
• ClinVar RCV Id: RCV001249642
• dbSNP Id: rs1753824837
• MyVariant Identifiers: chr5:g.160758119A>G (hg19) ; chr5:g.161331112A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161331112A>G , CM000667.2:g.161331112A>G	GRCh38
NC_000005.9:g.160758119A>G , CM000667.1:g.160758119A>G	GRCh37
NC_000005.8:g.160690697A>G	NCBI36
NG_047050.1:g.222013T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274547.7:c.848T>C	ENSP00000274547.2:p.Leu283Pro
ENST00000393959.6:c.848T>C MANE Select	ENSP00000377531.1:p.Leu283Pro
ENST00000674514.1:n.930T>C
ENST00000675081.1:c.*307T>C	ENSP00000502207.1:n.*307T>C
ENST00000675303.1:c.848T>C	ENSP00000502748.1:p.Leu283Pro
ENST00000675381.1:c.596T>C	ENSP00000501968.1:p.Leu199Pro
ENST00000675746.1:c.98T>C	ENSP00000502391.1:p.Leu33Pro
ENST00000675773.1:c.848T>C	ENSP00000502701.1:p.Leu283Pro
ENST00000274547.6:c.848T>C	ENSP00000274547.2:p.Leu283Pro
ENST00000353437.10:c.848T>C	ENSP00000274546.6:p.Leu283Pro
ENST00000393959.5:c.848T>C	ENSP00000377531.1:p.Leu283Pro
ENST00000517547.5:c.368T>C	ENSP00000429750.1:p.Leu123Pro
ENST00000517901.5:c.659T>C	ENSP00000430532.1:p.Leu220Pro
ENST00000520240.5:c.848T>C	ENSP00000429320.1:p.Leu283Pro
ENST00000612710.1:c.659T>C	ENSP00000480066.1:p.Leu220Pro
NM_000813.2:c.848T>C	NP_000804.1:p.Leu283Pro
NM_021911.2:c.848T>C	NP_068711.1:p.Leu283Pro
XM_011534501.1:c.98T>C	XP_011532803.1:p.Leu33Pro
NM_000813.3:c.848T>C	NP_000804.1:p.Leu283Pro
NM_001371727.1:c.848T>C MANE Select	NP_001358656.1:p.Leu283Pro
NM_021911.3:c.848T>C	NP_068711.1:p.Leu283Pro