Canonical Allele Identifier: CA362183244

Gene: GABRG2

Linked Data

• gnomAD v4: 5-162153127-C-G
• MyVariant Identifiers: chr5:g.161580133C>G (hg19) ; chr5:g.162153127C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153127C>G , CM000667.2:g.162153127C>G	GRCh38
NC_000005.9:g.161580133C>G , CM000667.1:g.161580133C>G	GRCh37
NC_000005.8:g.161512711C>G	NCBI36
NG_009290.1:g.90486C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1188C>G
ENST00000361925.9:c.1283C>G	ENSP00000354651.5:p.Thr428Ser
ENST00000523372.2:c.1246C>G
ENST00000638253.1:n.441C>G
ENST00000638552.1:c.878C>G	ENSP00000491763.1:p.Thr293Ser
ENST00000638660.1:c.902C>G	ENSP00000492869.1:p.Thr301Ser
ENST00000638772.1:c.*3784C>G	ENSP00000491557.1:n.*3784C>G
ENST00000638877.1:c.1064C>G
ENST00000639046.1:c.554C>G	ENSP00000492659.1:p.Thr185Ser
ENST00000639111.2:c.1163C>G	ENSP00000492125.2:p.Thr388Ser
ENST00000639213.2:c.1187C>G MANE Select	ENSP00000491909.2:p.Thr396Ser
ENST00000639278.1:c.1850C>G	ENSP00000491958.1:n.1850C>G
ENST00000639384.1:c.*1368C>G	ENSP00000491240.1:n.*1368C>G
ENST00000639424.1:c.*387C>G	ENSP00000491245.1:n.*387C>G
ENST00000639683.1:c.1121C>G	ENSP00000492581.1:p.Thr374Ser
ENST00000639975.1:c.1097C>G	ENSP00000492096.1:p.Thr366Ser
ENST00000640500.1:n.461C>G
ENST00000640739.1:n.6134C>G
ENST00000640910.1:c.625C>G
ENST00000640985.1:c.1100C>G	ENSP00000492293.1:p.Thr367Ser
ENST00000641017.1:c.1256C>G	ENSP00000493461.1:p.Thr419Ser
ENST00000356592.7:c.1187C>G	ENSP00000349000.3:p.Thr396Ser
ENST00000361925.8:c.1163C>G	ENSP00000354651.4:p.Thr388Ser
ENST00000414552.6:c.1307C>G	ENSP00000410732.2:p.Thr436Ser
ENST00000522990.5:c.*765C>G	ENSP00000430732.1:n.*765C>G
ENST00000523372.1:c.1284C>G	ENSP00000430124.1:n.1284C>G
NM_000816.3:c.1163C>G	NP_000807.2:p.Thr388Ser
NM_198903.2:c.1307C>G	NP_944493.2:p.Thr436Ser
NM_198904.2:c.1187C>G	NP_944494.1:p.Thr396Ser
NM_001375339.1:c.1178C>G	NP_001362268.1:p.Thr393Ser
NM_001375340.1:c.*21C>G	NP_001362269.1:n.*21C>G
NM_001375341.1:c.1184C>G	NP_001362270.1:p.Thr395Ser
NM_001375342.1:c.1160C>G	NP_001362271.1:p.Thr387Ser
NM_001375343.1:c.1283C>G	NP_001362272.1:p.Thr428Ser
NM_001375344.1:c.1226C>G	NP_001362273.1:p.Thr409Ser
NM_001375345.1:c.1097C>G	NP_001362274.1:p.Thr366Ser
NM_001375346.1:c.1121C>G	NP_001362275.1:p.Thr374Ser
NM_001375347.1:c.1100C>G	NP_001362276.1:p.Thr367Ser
NM_001375348.1:c.743C>G	NP_001362277.1:p.Thr248Ser
NM_001375349.1:c.878C>G	NP_001362278.1:p.Thr293Ser
NM_001375350.1:c.767C>G	NP_001362279.1:p.Thr256Ser
NM_198904.3:c.1187C>G	NP_944494.1:p.Thr396Ser
NM_198904.4:c.1187C>G MANE Select	NP_944494.1:p.Thr396Ser