Canonical Allele Identifier: CA16618150
Gene: GABRB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 418222
ClinVar RCV Id: RCV000478769
dbSNP Id: rs1064793133
MyVariant Identifiers: chr5:g.160758100G>T (hg19) chr5:g.161331093G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.161331093G>T , CM000667.2:g.161331093G>T GRCh38
NC_000005.9:g.160758100G>T , CM000667.1:g.160758100G>T GRCh37
NC_000005.8:g.160690678G>T NCBI36
NG_047050.1:g.222032C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000274547.7:c.867C>A ENSP00000274547.2:p.Asn289Lys
ENST00000393959.6:c.867C>A MANE Select ENSP00000377531.1:p.Asn289Lys
ENST00000674514.1:n.949C>A
ENST00000675081.1:c.*326C>A ENSP00000502207.1:n.*326C>A
ENST00000675303.1:c.867C>A ENSP00000502748.1:p.Asn289Lys
ENST00000675381.1:c.615C>A ENSP00000501968.1:p.Asn205Lys
ENST00000675746.1:c.117C>A ENSP00000502391.1:p.Asn39Lys
ENST00000675773.1:c.867C>A ENSP00000502701.1:p.Asn289Lys
ENST00000274547.6:c.867C>A ENSP00000274547.2:p.Asn289Lys
ENST00000353437.10:c.867C>A ENSP00000274546.6:p.Asn289Lys
ENST00000393959.5:c.867C>A ENSP00000377531.1:p.Asn289Lys
ENST00000517547.5:c.387C>A ENSP00000429750.1:p.Asn129Lys
ENST00000517901.5:c.678C>A ENSP00000430532.1:p.Asn226Lys
ENST00000520240.5:c.867C>A ENSP00000429320.1:p.Asn289Lys
ENST00000612710.1:c.678C>A ENSP00000480066.1:p.Asn226Lys
NM_000813.2:c.867C>A NP_000804.1:p.Asn289Lys
NM_021911.2:c.867C>A NP_068711.1:p.Asn289Lys
XM_011534501.1:c.117C>A XP_011532803.1:p.Asn39Lys
NM_000813.3:c.867C>A NP_000804.1:p.Asn289Lys
NM_001371727.1:c.867C>A MANE Select NP_001358656.1:p.Asn289Lys
NM_021911.3:c.867C>A NP_068711.1:p.Asn289Lys
Search 100 bp 5'
Search 100 bp 3'