Canonical Allele Identifier: CA362175330

Gene: GABRB2

Linked Data

• MyVariant Identifiers: chr5:g.160758045A>C (hg19) ; chr5:g.161331038A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161331038A>C , CM000667.2:g.161331038A>C	GRCh38
NC_000005.9:g.160758045A>C , CM000667.1:g.160758045A>C	GRCh37
NC_000005.8:g.160690623A>C	NCBI36
NG_047050.1:g.222087T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274547.7:c.922T>G	ENSP00000274547.2:p.Tyr308Asp
ENST00000393959.6:c.922T>G MANE Select	ENSP00000377531.1:p.Tyr308Asp
ENST00000674514.1:n.1004T>G
ENST00000675081.1:c.*381T>G	ENSP00000502207.1:n.*381T>G
ENST00000675303.1:c.922T>G	ENSP00000502748.1:p.Tyr308Asp
ENST00000675381.1:c.670T>G	ENSP00000501968.1:p.Tyr224Asp
ENST00000675746.1:c.172T>G	ENSP00000502391.1:p.Tyr58Asp
ENST00000675773.1:c.922T>G	ENSP00000502701.1:p.Tyr308Asp
ENST00000274547.6:c.922T>G	ENSP00000274547.2:p.Tyr308Asp
ENST00000353437.10:c.922T>G	ENSP00000274546.6:p.Tyr308Asp
ENST00000393959.5:c.922T>G	ENSP00000377531.1:p.Tyr308Asp
ENST00000517547.5:c.442T>G	ENSP00000429750.1:p.Tyr148Asp
ENST00000517901.5:c.733T>G	ENSP00000430532.1:p.Tyr245Asp
ENST00000520240.5:c.922T>G	ENSP00000429320.1:p.Tyr308Asp
ENST00000612710.1:c.733T>G	ENSP00000480066.1:p.Tyr245Asp
NM_000813.2:c.922T>G	NP_000804.1:p.Tyr308Asp
NM_021911.2:c.922T>G	NP_068711.1:p.Tyr308Asp
XM_011534501.1:c.172T>G	XP_011532803.1:p.Tyr58Asp
NM_000813.3:c.922T>G	NP_000804.1:p.Tyr308Asp
NM_001371727.1:c.922T>G MANE Select	NP_001358656.1:p.Tyr308Asp
NM_021911.3:c.922T>G	NP_068711.1:p.Tyr308Asp