Canonical Allele Identifier: CA362183844

Gene: GABRG2

Linked Data

• gnomAD v4: 5-162153271-T-G
• MyVariant Identifiers: chr5:g.161580277T>G (hg19) ; chr5:g.162153271T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153271T>G , CM000667.2:g.162153271T>G	GRCh38
NC_000005.9:g.161580277T>G , CM000667.1:g.161580277T>G	GRCh37
NC_000005.8:g.161512855T>G	NCBI36
NG_009290.1:g.90630T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1332T>G
ENST00000361925.9:c.1427T>G	ENSP00000354651.5:p.Ile476Ser
ENST00000523372.2:c.1390T>G
ENST00000638253.1:n.585T>G
ENST00000638552.1:c.1022T>G	ENSP00000491763.1:p.Ile341Ser
ENST00000638660.1:c.1046T>G	ENSP00000492869.1:p.Ile349Ser
ENST00000638772.1:c.*3928T>G	ENSP00000491557.1:n.*3928T>G
ENST00000638877.1:c.1208T>G
ENST00000639046.1:c.698T>G	ENSP00000492659.1:p.Ile233Ser
ENST00000639111.2:c.1307T>G	ENSP00000492125.2:p.Ile436Ser
ENST00000639213.2:c.1331T>G MANE Select	ENSP00000491909.2:p.Ile444Ser
ENST00000639278.1:c.1994T>G	ENSP00000491958.1:n.1994T>G
ENST00000639384.1:c.*1512T>G	ENSP00000491240.1:n.*1512T>G
ENST00000639424.1:c.*531T>G	ENSP00000491245.1:n.*531T>G
ENST00000639683.1:c.1265T>G	ENSP00000492581.1:p.Ile422Ser
ENST00000639975.1:c.1241T>G	ENSP00000492096.1:p.Ile414Ser
ENST00000640500.1:n.605T>G
ENST00000640739.1:n.6278T>G
ENST00000640910.1:c.769T>G
ENST00000640985.1:c.1244T>G	ENSP00000492293.1:p.Ile415Ser
ENST00000641017.1:c.1400T>G	ENSP00000493461.1:p.Ile467Ser
ENST00000356592.7:c.1331T>G	ENSP00000349000.3:p.Ile444Ser
ENST00000361925.8:c.1307T>G	ENSP00000354651.4:p.Ile436Ser
ENST00000414552.6:c.1451T>G	ENSP00000410732.2:p.Ile484Ser
ENST00000522990.5:c.*909T>G	ENSP00000430732.1:n.*909T>G
ENST00000523372.1:c.1428T>G	ENSP00000430124.1:n.1428T>G
NM_000816.3:c.1307T>G	NP_000807.2:p.Ile436Ser
NM_198903.2:c.1451T>G	NP_944493.2:p.Ile484Ser
NM_198904.2:c.1331T>G	NP_944494.1:p.Ile444Ser
NM_001375339.1:c.1322T>G	NP_001362268.1:p.Ile441Ser
NM_001375340.1:c.*165T>G	NP_001362269.1:n.*165T>G
NM_001375341.1:c.1328T>G	NP_001362270.1:p.Ile443Ser
NM_001375342.1:c.1304T>G	NP_001362271.1:p.Ile435Ser
NM_001375343.1:c.1427T>G	NP_001362272.1:p.Ile476Ser
NM_001375344.1:c.1370T>G	NP_001362273.1:p.Ile457Ser
NM_001375345.1:c.1241T>G	NP_001362274.1:p.Ile414Ser
NM_001375346.1:c.1265T>G	NP_001362275.1:p.Ile422Ser
NM_001375347.1:c.1244T>G	NP_001362276.1:p.Ile415Ser
NM_001375348.1:c.887T>G	NP_001362277.1:p.Ile296Ser
NM_001375349.1:c.1022T>G	NP_001362278.1:p.Ile341Ser
NM_001375350.1:c.911T>G	NP_001362279.1:p.Ile304Ser
NM_198904.3:c.1331T>G	NP_944494.1:p.Ile444Ser
NM_198904.4:c.1331T>G MANE Select	NP_944494.1:p.Ile444Ser