Canonical Allele Identifier: CA3543568

Gene: GABRB2

Linked Data

• dbSNP Id: rs752602002
• ExAC: 5:160837946 G / C
• gnomAD v2: 5-160837946-G-C
• gnomAD v3: 5-161410940-G-C
• gnomAD v4: 5-161410940-G-C
• MyVariant Identifiers: chr5:g.160837946G>C (hg19) ; chr5:g.161410940G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161410940G>C , CM000667.2:g.161410940G>C	GRCh38
NC_000005.9:g.160837946G>C , CM000667.1:g.160837946G>C	GRCh37
NC_000005.8:g.160770524G>C	NCBI36
NG_047050.1:g.142185C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274547.7:c.541+35C>G	ENSP00000274547.2:n.541+35C>G
ENST00000393959.6:c.541+35C>G MANE Select	ENSP00000377531.1:n.541+35C>G
ENST00000674514.1:n.623+35C>G
ENST00000675081.1:c.289+35C>G	ENSP00000502207.1:n.289+35C>G
ENST00000675303.1:c.541+35C>G	ENSP00000502748.1:n.541+35C>G
ENST00000675381.1:c.289+35C>G	ENSP00000501968.1:n.289+35C>G
ENST00000675773.1:c.541+35C>G	ENSP00000502701.1:n.541+35C>G
ENST00000274547.6:c.541+35C>G	ENSP00000274547.2:n.541+35C>G
ENST00000353437.10:c.541+35C>G	ENSP00000274546.6:n.541+35C>G
ENST00000393959.5:c.541+35C>G	ENSP00000377531.1:n.541+35C>G
ENST00000517547.5:c.61+35C>G	ENSP00000429750.1:n.61+35C>G
ENST00000517901.5:c.352+35C>G	ENSP00000430532.1:n.352+35C>G
ENST00000520240.5:c.541+35C>G	ENSP00000429320.1:n.541+35C>G
ENST00000612710.1:c.352+35C>G	ENSP00000480066.1:n.352+35C>G
NM_000813.2:c.541+35C>G	NP_000804.1:n.541+35C>G
NM_021911.2:c.541+35C>G	NP_068711.1:n.541+35C>G
NM_000813.3:c.541+35C>G	NP_000804.1:n.541+35C>G
NM_001371727.1:c.541+35C>G MANE Select	NP_001358656.1:n.541+35C>G
NM_021911.3:c.541+35C>G	NP_068711.1:n.541+35C>G