Canonical Allele Identifier: CA16604858

Gene: GABRG2

Linked Data

• ClinVar Variation Id: 382933
• ClinVar RCV Id: RCV003766257
• dbSNP Id: rs1057521488
• gnomAD v2: 5-161576205-T-C
• gnomAD v3: 5-162149199-T-C
• gnomAD v4: 5-162149199-T-C
• MyVariant Identifiers: chr5:g.161576205T>C (hg19) ; chr5:g.162149199T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162149199T>C , CM000667.2:g.162149199T>C	GRCh38
NC_000005.9:g.161576205T>C , CM000667.1:g.161576205T>C	GRCh37
NC_000005.8:g.161508783T>C	NCBI36
NG_009290.1:g.86558T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356592.8:c.1015T>C
ENST00000361925.9:c.1134T>C	ENSP00000354651.5:p.Phe378=
ENST00000523372.2:c.1097T>C
ENST00000638253.1:n.268T>C
ENST00000638552.1:c.729T>C	ENSP00000491763.1:p.Phe243=
ENST00000638660.1:c.729T>C	ENSP00000492869.1:p.Phe243=
ENST00000638772.1:c.1014T>C	ENSP00000491557.1:p.Phe338=
ENST00000638877.1:c.891T>C
ENST00000639046.1:c.405T>C	ENSP00000492659.1:p.Phe135=
ENST00000639111.2:c.1014T>C	ENSP00000492125.2:p.Phe338=
ENST00000639213.2:c.1014T>C MANE Select	ENSP00000491909.2:p.Phe338=
ENST00000639278.1:c.942T>C	ENSP00000491958.1:p.Phe314=
ENST00000639384.1:c.1014T>C	ENSP00000491240.1:p.Phe338=
ENST00000639424.1:c.*214T>C	ENSP00000491245.1:n.*214T>C
ENST00000639683.1:c.948T>C	ENSP00000492581.1:p.Phe316=
ENST00000639975.1:c.948T>C	ENSP00000492096.1:p.Phe316=
ENST00000640500.1:n.312T>C
ENST00000640574.1:c.729T>C	ENSP00000491582.1:p.Phe243=
ENST00000640739.1:n.3545T>C
ENST00000640910.1:c.452T>C
ENST00000640985.1:c.927T>C	ENSP00000492293.1:p.Phe309=
ENST00000641017.1:c.1014T>C	ENSP00000493461.1:p.Phe338=
ENST00000356592.7:c.1014T>C	ENSP00000349000.3:p.Phe338=
ENST00000361925.8:c.1014T>C	ENSP00000354651.4:p.Phe338=
ENST00000414552.6:c.1134T>C	ENSP00000410732.2:p.Phe378=
ENST00000522990.5:c.*616T>C	ENSP00000430732.1:n.*616T>C
ENST00000523372.1:c.1135T>C	ENSP00000430124.1:n.1135T>C
NM_000816.3:c.1014T>C	NP_000807.2:p.Phe338=
NM_198903.2:c.1134T>C	NP_944493.2:p.Phe378=
NM_198904.2:c.1014T>C	NP_944494.1:p.Phe338=
NM_001375339.1:c.1005T>C	NP_001362268.1:p.Phe335=
NM_001375340.1:c.923-2531T>C	NP_001362269.1:n.923-2531T>C
NM_001375341.1:c.1011T>C	NP_001362270.1:p.Phe337=
NM_001375342.1:c.1011T>C	NP_001362271.1:p.Phe337=
NM_001375343.1:c.1134T>C	NP_001362272.1:p.Phe378=
NM_001375344.1:c.1053T>C	NP_001362273.1:p.Phe351=
NM_001375345.1:c.948T>C	NP_001362274.1:p.Phe316=
NM_001375346.1:c.948T>C	NP_001362275.1:p.Phe316=
NM_001375347.1:c.927T>C	NP_001362276.1:p.Phe309=
NM_001375348.1:c.594T>C	NP_001362277.1:p.Phe198=
NM_001375349.1:c.729T>C	NP_001362278.1:p.Phe243=
NM_001375350.1:c.594T>C	NP_001362279.1:p.Phe198=
NM_198904.3:c.1014T>C	NP_944494.1:p.Phe338=
NM_198904.4:c.1014T>C MANE Select	NP_944494.1:p.Phe338=