Canonical Allele Identifier: CA16604739

Gene: GABRG2

Linked Data

• ClinVar Variation Id: 387546
• ClinVar RCV Id: RCV000421155
• dbSNP Id: rs1057522820
• MyVariant Identifiers: chr5:g.161495020T>C (hg19) ; chr5:g.162068014T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162068014T>C , CM000667.2:g.162068014T>C	GRCh38
NC_000005.9:g.161495020T>C , CM000667.1:g.161495020T>C	GRCh37
NC_000005.8:g.161427598T>C	NCBI36
NG_009290.1:g.5373T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361925.9:c.15T>C	ENSP00000354651.5:p.Asn5=
ENST00000638552.1:c.-179+6105T>C	ENSP00000491763.1:n.-179+6105T>C
ENST00000638660.1:c.-179+6105T>C	ENSP00000492869.1:n.-179+6105T>C
ENST00000638772.1:c.15T>C	ENSP00000491557.1:p.Asn5=
ENST00000638782.1:n.77T>C
ENST00000639046.1:c.23-35875T>C	ENSP00000492659.1:n.23-35875T>C
ENST00000639111.2:c.15T>C	ENSP00000492125.2:p.Asn5=
ENST00000639213.2:c.15T>C MANE Select	ENSP00000491909.2:p.Asn5=
ENST00000639384.1:c.15T>C	ENSP00000491240.1:p.Asn5=
ENST00000639424.1:c.15T>C	ENSP00000491245.1:p.Asn5=
ENST00000639549.1:n.239T>C
ENST00000639683.1:c.-3-49T>C	ENSP00000492581.1:n.-3-49T>C
ENST00000639975.1:c.-3-49T>C	ENSP00000492096.1:n.-3-49T>C
ENST00000640574.1:c.-179+6105T>C	ENSP00000491582.1:n.-179+6105T>C
ENST00000640757.1:c.114-25814T>C	ENSP00000492329.1:n.114-25814T>C
ENST00000640985.1:c.20+373T>C	ENSP00000492293.1:n.20+373T>C
ENST00000641017.1:c.15T>C	ENSP00000493461.1:p.Asn5=
ENST00000356592.7:c.15T>C	ENSP00000349000.3:p.Asn5=
ENST00000361925.8:c.15T>C	ENSP00000354651.4:p.Asn5=
ENST00000414552.6:c.15T>C	ENSP00000410732.2:p.Asn5=
ENST00000522990.5:c.15T>C	ENSP00000430732.1:p.Asn5=
ENST00000523372.1:c.15T>C	ENSP00000430124.1:p.Asn5=
NM_000816.3:c.15T>C	NP_000807.2:p.Asn5=
NM_198903.2:c.15T>C	NP_944493.2:p.Asn5=
NM_198904.2:c.15T>C	NP_944494.1:p.Asn5=
NM_001375339.1:c.15T>C	NP_001362268.1:p.Asn5=
NM_001375340.1:c.15T>C	NP_001362269.1:p.Asn5=
NM_001375341.1:c.15T>C	NP_001362270.1:p.Asn5=
NM_001375342.1:c.15T>C	NP_001362271.1:p.Asn5=
NM_001375343.1:c.15T>C	NP_001362272.1:p.Asn5=
NM_001375344.1:c.15T>C	NP_001362273.1:p.Asn5=
NM_001375345.1:c.-3-49T>C	NP_001362274.1:n.-3-49T>C
NM_001375346.1:c.-3-49T>C	NP_001362275.1:n.-3-49T>C
NM_001375347.1:c.20+373T>C	NP_001362276.1:n.20+373T>C
NM_001375348.1:c.-344T>C	NP_001362277.1:n.-344T>C
NM_001375349.1:c.-392T>C	NP_001362278.1:n.-392T>C
NM_001375350.1:c.-344T>C	NP_001362279.1:n.-344T>C
NM_198904.3:c.15T>C	NP_944494.1:p.Asn5=
NM_198904.4:c.15T>C MANE Select	NP_944494.1:p.Asn5=