Canonical Allele Identifier: CA362175056

Gene: GABRB2

Linked Data

• dbSNP Id: rs1421078320
• gnomAD v4: 5-161330927-C-G
• MyVariant Identifiers: chr5:g.160757934C>G (hg19) ; chr5:g.161330927C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161330927C>G , CM000667.2:g.161330927C>G	GRCh38
NC_000005.9:g.160757934C>G , CM000667.1:g.160757934C>G	GRCh37
NC_000005.8:g.160690512C>G	NCBI36
NG_047050.1:g.222198G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274547.7:c.1033G>C	ENSP00000274547.2:p.Ala345Pro
ENST00000393959.6:c.1033G>C MANE Select	ENSP00000377531.1:p.Ala345Pro
ENST00000674514.1:n.1115G>C
ENST00000675081.1:c.*492G>C	ENSP00000502207.1:n.*492G>C
ENST00000675303.1:c.1033G>C	ENSP00000502748.1:p.Ala345Pro
ENST00000675381.1:c.781G>C	ENSP00000501968.1:p.Ala261Pro
ENST00000675746.1:c.283G>C	ENSP00000502391.1:p.Ala95Pro
ENST00000675773.1:c.1033G>C	ENSP00000502701.1:p.Ala345Pro
ENST00000274547.6:c.1033G>C	ENSP00000274547.2:p.Ala345Pro
ENST00000353437.10:c.1033G>C	ENSP00000274546.6:p.Ala345Pro
ENST00000393959.5:c.1033G>C	ENSP00000377531.1:p.Ala345Pro
ENST00000517547.5:c.553G>C	ENSP00000429750.1:p.Ala185Pro
ENST00000517901.5:c.844G>C	ENSP00000430532.1:p.Ala282Pro
ENST00000520240.5:c.1033G>C	ENSP00000429320.1:p.Ala345Pro
ENST00000612710.1:c.844G>C	ENSP00000480066.1:p.Ala282Pro
NM_000813.2:c.1033G>C	NP_000804.1:p.Ala345Pro
NM_021911.2:c.1033G>C	NP_068711.1:p.Ala345Pro
XM_011534501.1:c.283G>C	XP_011532803.1:p.Ala95Pro
NM_000813.3:c.1033G>C	NP_000804.1:p.Ala345Pro
NM_001371727.1:c.1033G>C MANE Select	NP_001358656.1:p.Ala345Pro
NM_021911.3:c.1033G>C	NP_068711.1:p.Ala345Pro