Canonical Allele Identifier: CA362185093

Gene: GABRG2

Linked Data

• ClinVar Variation Id: 2953830
• ClinVar RCV Id: RCV003813053
• gnomAD v4: 5-162103948-G-T
• MyVariant Identifiers: chr5:g.161530954G>T (hg19) ; chr5:g.162103948G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162103948G>T , CM000667.2:g.162103948G>T	GRCh38
NC_000005.9:g.161530954G>T , CM000667.1:g.161530954G>T	GRCh37
NC_000005.8:g.161463532G>T	NCBI36
NG_009290.1:g.41307G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356592.8:c.653G>T
ENST00000361925.9:c.811G>T	ENSP00000354651.5:p.Asp271Tyr
ENST00000522053.2:n.582G>T
ENST00000523372.2:c.774G>T
ENST00000638552.1:c.406G>T	ENSP00000491763.1:p.Asp136Tyr
ENST00000638660.1:c.406G>T	ENSP00000492869.1:p.Asp136Tyr
ENST00000638772.1:c.691G>T	ENSP00000491557.1:p.Asp231Tyr
ENST00000638782.1:n.753G>T
ENST00000638877.1:c.568G>T
ENST00000639046.1:c.82G>T	ENSP00000492659.1:p.Asp28Tyr
ENST00000639111.2:c.691G>T	ENSP00000492125.2:p.Asp231Tyr
ENST00000639213.2:c.691G>T MANE Select	ENSP00000491909.2:p.Asp231Tyr
ENST00000639278.1:c.619G>T	ENSP00000491958.1:p.Asp207Tyr
ENST00000639384.1:c.691G>T	ENSP00000491240.1:p.Asp231Tyr
ENST00000639424.1:c.107+35842G>T	ENSP00000491245.1:n.107+35842G>T
ENST00000639683.1:c.625G>T	ENSP00000492581.1:p.Asp209Tyr
ENST00000639975.1:c.625G>T	ENSP00000492096.1:p.Asp209Tyr
ENST00000640574.1:c.406G>T	ENSP00000491582.1:p.Asp136Tyr
ENST00000640739.1:n.3222G>T
ENST00000640910.1:c.129G>T
ENST00000640985.1:c.604G>T	ENSP00000492293.1:p.Asp202Tyr
ENST00000641017.1:c.691G>T	ENSP00000493461.1:p.Asp231Tyr
ENST00000356592.7:c.691G>T	ENSP00000349000.3:p.Asp231Tyr
ENST00000361925.8:c.691G>T	ENSP00000354651.4:p.Asp231Tyr
ENST00000414552.6:c.811G>T	ENSP00000410732.2:p.Asp271Tyr
ENST00000522053.1:c.406G>T	ENSP00000430182.1:p.Asp136Tyr
ENST00000522990.5:c.*293G>T	ENSP00000430732.1:n.*293G>T
ENST00000523372.1:c.812G>T	ENSP00000430124.1:n.812G>T
NM_000816.3:c.691G>T	NP_000807.2:p.Asp231Tyr
NM_198903.2:c.811G>T	NP_944493.2:p.Asp271Tyr
NM_198904.2:c.691G>T	NP_944494.1:p.Asp231Tyr
NM_001375339.1:c.682G>T	NP_001362268.1:p.Asp228Tyr
NM_001375340.1:c.691G>T	NP_001362269.1:p.Asp231Tyr
NM_001375341.1:c.691G>T	NP_001362270.1:p.Asp231Tyr
NM_001375342.1:c.691G>T	NP_001362271.1:p.Asp231Tyr
NM_001375343.1:c.811G>T	NP_001362272.1:p.Asp271Tyr
NM_001375344.1:c.691G>T	NP_001362273.1:p.Asp231Tyr
NM_001375345.1:c.625G>T	NP_001362274.1:p.Asp209Tyr
NM_001375346.1:c.625G>T	NP_001362275.1:p.Asp209Tyr
NM_001375347.1:c.604G>T	NP_001362276.1:p.Asp202Tyr
NM_001375348.1:c.271G>T	NP_001362277.1:p.Asp91Tyr
NM_001375349.1:c.406G>T	NP_001362278.1:p.Asp136Tyr
NM_001375350.1:c.271G>T	NP_001362279.1:p.Asp91Tyr
NM_198904.3:c.691G>T	NP_944494.1:p.Asp231Tyr
NM_198904.4:c.691G>T MANE Select	NP_944494.1:p.Asp231Tyr