Canonical Allele Identifier: CA16618152
Gene: GABRB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 418957
ClinVar RCV Id: RCV000478537
dbSNP Id: rs1064793551
MyVariant Identifiers: chr5:g.160761854A>G (hg19) chr5:g.161334847A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.161334847A>G , CM000667.2:g.161334847A>G GRCh38
NC_000005.9:g.160761854A>G , CM000667.1:g.160761854A>G GRCh37
NC_000005.8:g.160694432A>G NCBI36
NG_047050.1:g.218278T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000274547.7:c.737T>C ENSP00000274547.2:p.Ile246Thr
ENST00000393959.6:c.737T>C MANE Select ENSP00000377531.1:p.Ile246Thr
ENST00000674514.1:n.819T>C
ENST00000675081.1:c.*196T>C ENSP00000502207.1:n.*196T>C
ENST00000675303.1:c.737T>C ENSP00000502748.1:p.Ile246Thr
ENST00000675381.1:c.485T>C ENSP00000501968.1:p.Ile162Thr
ENST00000675746.1:c.-14T>C ENSP00000502391.1:n.-14T>C
ENST00000675773.1:c.737T>C ENSP00000502701.1:p.Ile246Thr
ENST00000274547.6:c.737T>C ENSP00000274547.2:p.Ile246Thr
ENST00000353437.10:c.737T>C ENSP00000274546.6:p.Ile246Thr
ENST00000393959.5:c.737T>C ENSP00000377531.1:p.Ile246Thr
ENST00000517547.5:c.257T>C ENSP00000429750.1:p.Ile86Thr
ENST00000517901.5:c.548T>C ENSP00000430532.1:p.Ile183Thr
ENST00000520240.5:c.737T>C ENSP00000429320.1:p.Ile246Thr
ENST00000612710.1:c.548T>C ENSP00000480066.1:p.Ile183Thr
NM_000813.2:c.737T>C NP_000804.1:p.Ile246Thr
NM_021911.2:c.737T>C NP_068711.1:p.Ile246Thr
XM_011534501.1:c.-14T>C XP_011532803.1:n.-14T>C
NM_000813.3:c.737T>C NP_000804.1:p.Ile246Thr
NM_001371727.1:c.737T>C MANE Select NP_001358656.1:p.Ile246Thr
NM_021911.3:c.737T>C NP_068711.1:p.Ile246Thr
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