Canonical Allele Identifier: CA447692030

Gene: GABRG2

Linked Data

• ClinVar Variation Id: 1582226
• ClinVar RCV Id: RCV002111135
• dbSNP Id: rs1220037383
• gnomAD v2: 5-161580350-T-C
• gnomAD v4: 5-162153344-T-C
• MyVariant Identifiers: chr5:g.161580350T>C (hg19) ; chr5:g.162153344T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153344T>C , CM000667.2:g.162153344T>C	GRCh38
NC_000005.9:g.161580350T>C , CM000667.1:g.161580350T>C	GRCh37
NC_000005.8:g.161512928T>C	NCBI36
NG_009290.1:g.90703T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1405T>C
ENST00000361925.9:c.1500T>C	ENSP00000354651.5:p.Tyr500=
ENST00000523372.2:c.1463T>C
ENST00000638253.1:n.658T>C
ENST00000638552.1:c.1095T>C	ENSP00000491763.1:p.Tyr365=
ENST00000638660.1:c.1119T>C	ENSP00000492869.1:p.Tyr373=
ENST00000638772.1:c.*4001T>C	ENSP00000491557.1:n.*4001T>C
ENST00000638877.1:c.1281T>C
ENST00000639046.1:c.771T>C	ENSP00000492659.1:p.Tyr257=
ENST00000639111.2:c.1380T>C	ENSP00000492125.2:p.Tyr460=
ENST00000639213.2:c.1404T>C MANE Select	ENSP00000491909.2:p.Tyr468=
ENST00000639278.1:c.2067T>C	ENSP00000491958.1:n.2067T>C
ENST00000639384.1:c.*1585T>C	ENSP00000491240.1:n.*1585T>C
ENST00000639424.1:c.*604T>C	ENSP00000491245.1:n.*604T>C
ENST00000639683.1:c.1338T>C	ENSP00000492581.1:p.Tyr446=
ENST00000639975.1:c.1314T>C	ENSP00000492096.1:p.Tyr438=
ENST00000640500.1:n.678T>C
ENST00000640739.1:n.6351T>C
ENST00000640910.1:c.842T>C
ENST00000640985.1:c.1317T>C	ENSP00000492293.1:p.Tyr439=
ENST00000641017.1:c.1473T>C	ENSP00000493461.1:p.Tyr491=
ENST00000356592.7:c.1404T>C	ENSP00000349000.3:p.Tyr468=
ENST00000361925.8:c.1380T>C	ENSP00000354651.4:p.Tyr460=
ENST00000414552.6:c.1524T>C	ENSP00000410732.2:p.Tyr508=
ENST00000522990.5:c.*982T>C	ENSP00000430732.1:n.*982T>C
ENST00000523372.1:c.1501T>C	ENSP00000430124.1:n.1501T>C
NM_000816.3:c.1380T>C	NP_000807.2:p.Tyr460=
NM_198903.2:c.1524T>C	NP_944493.2:p.Tyr508=
NM_198904.2:c.1404T>C	NP_944494.1:p.Tyr468=
NM_001375339.1:c.1395T>C	NP_001362268.1:p.Tyr465=
NM_001375340.1:c.*238T>C	NP_001362269.1:n.*238T>C
NM_001375341.1:c.1401T>C	NP_001362270.1:p.Tyr467=
NM_001375342.1:c.1377T>C	NP_001362271.1:p.Tyr459=
NM_001375343.1:c.1500T>C	NP_001362272.1:p.Tyr500=
NM_001375344.1:c.1443T>C	NP_001362273.1:p.Tyr481=
NM_001375345.1:c.1314T>C	NP_001362274.1:p.Tyr438=
NM_001375346.1:c.1338T>C	NP_001362275.1:p.Tyr446=
NM_001375347.1:c.1317T>C	NP_001362276.1:p.Tyr439=
NM_001375348.1:c.960T>C	NP_001362277.1:p.Tyr320=
NM_001375349.1:c.1095T>C	NP_001362278.1:p.Tyr365=
NM_001375350.1:c.984T>C	NP_001362279.1:p.Tyr328=
NM_198904.3:c.1404T>C	NP_944494.1:p.Tyr468=
NM_198904.4:c.1404T>C MANE Select	NP_944494.1:p.Tyr468=