Canonical Allele Identifier: CA362183916

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580295A>C (hg19) ; chr5:g.162153289A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153289A>C , CM000667.2:g.162153289A>C	GRCh38
NC_000005.9:g.161580295A>C , CM000667.1:g.161580295A>C	GRCh37
NC_000005.8:g.161512873A>C	NCBI36
NG_009290.1:g.90648A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1350A>C
ENST00000361925.9:c.1445A>C	ENSP00000354651.5:p.Asp482Ala
ENST00000523372.2:c.1408A>C
ENST00000638253.1:n.603A>C
ENST00000638552.1:c.1040A>C	ENSP00000491763.1:p.Asp347Ala
ENST00000638660.1:c.1064A>C	ENSP00000492869.1:p.Asp355Ala
ENST00000638772.1:c.*3946A>C	ENSP00000491557.1:n.*3946A>C
ENST00000638877.1:c.1226A>C
ENST00000639046.1:c.716A>C	ENSP00000492659.1:p.Asp239Ala
ENST00000639111.2:c.1325A>C	ENSP00000492125.2:p.Asp442Ala
ENST00000639213.2:c.1349A>C MANE Select	ENSP00000491909.2:p.Asp450Ala
ENST00000639278.1:c.2012A>C	ENSP00000491958.1:n.2012A>C
ENST00000639384.1:c.*1530A>C	ENSP00000491240.1:n.*1530A>C
ENST00000639424.1:c.*549A>C	ENSP00000491245.1:n.*549A>C
ENST00000639683.1:c.1283A>C	ENSP00000492581.1:p.Asp428Ala
ENST00000639975.1:c.1259A>C	ENSP00000492096.1:p.Asp420Ala
ENST00000640500.1:n.623A>C
ENST00000640739.1:n.6296A>C
ENST00000640910.1:c.787A>C
ENST00000640985.1:c.1262A>C	ENSP00000492293.1:p.Asp421Ala
ENST00000641017.1:c.1418A>C	ENSP00000493461.1:p.Asp473Ala
ENST00000356592.7:c.1349A>C	ENSP00000349000.3:p.Asp450Ala
ENST00000361925.8:c.1325A>C	ENSP00000354651.4:p.Asp442Ala
ENST00000414552.6:c.1469A>C	ENSP00000410732.2:p.Asp490Ala
ENST00000522990.5:c.*927A>C	ENSP00000430732.1:n.*927A>C
ENST00000523372.1:c.1446A>C	ENSP00000430124.1:n.1446A>C
NM_000816.3:c.1325A>C	NP_000807.2:p.Asp442Ala
NM_198903.2:c.1469A>C	NP_944493.2:p.Asp490Ala
NM_198904.2:c.1349A>C	NP_944494.1:p.Asp450Ala
NM_001375339.1:c.1340A>C	NP_001362268.1:p.Asp447Ala
NM_001375340.1:c.*183A>C	NP_001362269.1:n.*183A>C
NM_001375341.1:c.1346A>C	NP_001362270.1:p.Asp449Ala
NM_001375342.1:c.1322A>C	NP_001362271.1:p.Asp441Ala
NM_001375343.1:c.1445A>C	NP_001362272.1:p.Asp482Ala
NM_001375344.1:c.1388A>C	NP_001362273.1:p.Asp463Ala
NM_001375345.1:c.1259A>C	NP_001362274.1:p.Asp420Ala
NM_001375346.1:c.1283A>C	NP_001362275.1:p.Asp428Ala
NM_001375347.1:c.1262A>C	NP_001362276.1:p.Asp421Ala
NM_001375348.1:c.905A>C	NP_001362277.1:p.Asp302Ala
NM_001375349.1:c.1040A>C	NP_001362278.1:p.Asp347Ala
NM_001375350.1:c.929A>C	NP_001362279.1:p.Asp310Ala
NM_198904.3:c.1349A>C	NP_944494.1:p.Asp450Ala
NM_198904.4:c.1349A>C MANE Select	NP_944494.1:p.Asp450Ala