Canonical Allele Identifier: CA362183613

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580220T>C (hg19) ; chr5:g.162153214T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153214T>C , CM000667.2:g.162153214T>C	GRCh38
NC_000005.9:g.161580220T>C , CM000667.1:g.161580220T>C	GRCh37
NC_000005.8:g.161512798T>C	NCBI36
NG_009290.1:g.90573T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1275T>C
ENST00000361925.9:c.1370T>C	ENSP00000354651.5:p.Phe457Ser
ENST00000523372.2:c.1333T>C
ENST00000638253.1:n.528T>C
ENST00000638552.1:c.965T>C	ENSP00000491763.1:p.Phe322Ser
ENST00000638660.1:c.989T>C	ENSP00000492869.1:p.Phe330Ser
ENST00000638772.1:c.*3871T>C	ENSP00000491557.1:n.*3871T>C
ENST00000638877.1:c.1151T>C
ENST00000639046.1:c.641T>C	ENSP00000492659.1:p.Phe214Ser
ENST00000639111.2:c.1250T>C	ENSP00000492125.2:p.Phe417Ser
ENST00000639213.2:c.1274T>C MANE Select	ENSP00000491909.2:p.Phe425Ser
ENST00000639278.1:c.1937T>C	ENSP00000491958.1:n.1937T>C
ENST00000639384.1:c.*1455T>C	ENSP00000491240.1:n.*1455T>C
ENST00000639424.1:c.*474T>C	ENSP00000491245.1:n.*474T>C
ENST00000639683.1:c.1208T>C	ENSP00000492581.1:p.Phe403Ser
ENST00000639975.1:c.1184T>C	ENSP00000492096.1:p.Phe395Ser
ENST00000640500.1:n.548T>C
ENST00000640739.1:n.6221T>C
ENST00000640910.1:c.712T>C
ENST00000640985.1:c.1187T>C	ENSP00000492293.1:p.Phe396Ser
ENST00000641017.1:c.1343T>C	ENSP00000493461.1:p.Phe448Ser
ENST00000356592.7:c.1274T>C	ENSP00000349000.3:p.Phe425Ser
ENST00000361925.8:c.1250T>C	ENSP00000354651.4:p.Phe417Ser
ENST00000414552.6:c.1394T>C	ENSP00000410732.2:p.Phe465Ser
ENST00000522990.5:c.*852T>C	ENSP00000430732.1:n.*852T>C
ENST00000523372.1:c.1371T>C	ENSP00000430124.1:n.1371T>C
NM_000816.3:c.1250T>C	NP_000807.2:p.Phe417Ser
NM_198903.2:c.1394T>C	NP_944493.2:p.Phe465Ser
NM_198904.2:c.1274T>C	NP_944494.1:p.Phe425Ser
NM_001375339.1:c.1265T>C	NP_001362268.1:p.Phe422Ser
NM_001375340.1:c.*108T>C	NP_001362269.1:n.*108T>C
NM_001375341.1:c.1271T>C	NP_001362270.1:p.Phe424Ser
NM_001375342.1:c.1247T>C	NP_001362271.1:p.Phe416Ser
NM_001375343.1:c.1370T>C	NP_001362272.1:p.Phe457Ser
NM_001375344.1:c.1313T>C	NP_001362273.1:p.Phe438Ser
NM_001375345.1:c.1184T>C	NP_001362274.1:p.Phe395Ser
NM_001375346.1:c.1208T>C	NP_001362275.1:p.Phe403Ser
NM_001375347.1:c.1187T>C	NP_001362276.1:p.Phe396Ser
NM_001375348.1:c.830T>C	NP_001362277.1:p.Phe277Ser
NM_001375349.1:c.965T>C	NP_001362278.1:p.Phe322Ser
NM_001375350.1:c.854T>C	NP_001362279.1:p.Phe285Ser
NM_198904.3:c.1274T>C	NP_944494.1:p.Phe425Ser
NM_198904.4:c.1274T>C MANE Select	NP_944494.1:p.Phe425Ser