Canonical Allele Identifier: CA362183611

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580219T>C (hg19) ; chr5:g.162153213T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153213T>C , CM000667.2:g.162153213T>C	GRCh38
NC_000005.9:g.161580219T>C , CM000667.1:g.161580219T>C	GRCh37
NC_000005.8:g.161512797T>C	NCBI36
NG_009290.1:g.90572T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1274T>C
ENST00000361925.9:c.1369T>C	ENSP00000354651.5:p.Phe457Leu
ENST00000523372.2:c.1332T>C
ENST00000638253.1:n.527T>C
ENST00000638552.1:c.964T>C	ENSP00000491763.1:p.Phe322Leu
ENST00000638660.1:c.988T>C	ENSP00000492869.1:p.Phe330Leu
ENST00000638772.1:c.*3870T>C	ENSP00000491557.1:n.*3870T>C
ENST00000638877.1:c.1150T>C
ENST00000639046.1:c.640T>C	ENSP00000492659.1:p.Phe214Leu
ENST00000639111.2:c.1249T>C	ENSP00000492125.2:p.Phe417Leu
ENST00000639213.2:c.1273T>C MANE Select	ENSP00000491909.2:p.Phe425Leu
ENST00000639278.1:c.1936T>C	ENSP00000491958.1:n.1936T>C
ENST00000639384.1:c.*1454T>C	ENSP00000491240.1:n.*1454T>C
ENST00000639424.1:c.*473T>C	ENSP00000491245.1:n.*473T>C
ENST00000639683.1:c.1207T>C	ENSP00000492581.1:p.Phe403Leu
ENST00000639975.1:c.1183T>C	ENSP00000492096.1:p.Phe395Leu
ENST00000640500.1:n.547T>C
ENST00000640739.1:n.6220T>C
ENST00000640910.1:c.711T>C
ENST00000640985.1:c.1186T>C	ENSP00000492293.1:p.Phe396Leu
ENST00000641017.1:c.1342T>C	ENSP00000493461.1:p.Phe448Leu
ENST00000356592.7:c.1273T>C	ENSP00000349000.3:p.Phe425Leu
ENST00000361925.8:c.1249T>C	ENSP00000354651.4:p.Phe417Leu
ENST00000414552.6:c.1393T>C	ENSP00000410732.2:p.Phe465Leu
ENST00000522990.5:c.*851T>C	ENSP00000430732.1:n.*851T>C
ENST00000523372.1:c.1370T>C	ENSP00000430124.1:n.1370T>C
NM_000816.3:c.1249T>C	NP_000807.2:p.Phe417Leu
NM_198903.2:c.1393T>C	NP_944493.2:p.Phe465Leu
NM_198904.2:c.1273T>C	NP_944494.1:p.Phe425Leu
NM_001375339.1:c.1264T>C	NP_001362268.1:p.Phe422Leu
NM_001375340.1:c.*107T>C	NP_001362269.1:n.*107T>C
NM_001375341.1:c.1270T>C	NP_001362270.1:p.Phe424Leu
NM_001375342.1:c.1246T>C	NP_001362271.1:p.Phe416Leu
NM_001375343.1:c.1369T>C	NP_001362272.1:p.Phe457Leu
NM_001375344.1:c.1312T>C	NP_001362273.1:p.Phe438Leu
NM_001375345.1:c.1183T>C	NP_001362274.1:p.Phe395Leu
NM_001375346.1:c.1207T>C	NP_001362275.1:p.Phe403Leu
NM_001375347.1:c.1186T>C	NP_001362276.1:p.Phe396Leu
NM_001375348.1:c.829T>C	NP_001362277.1:p.Phe277Leu
NM_001375349.1:c.964T>C	NP_001362278.1:p.Phe322Leu
NM_001375350.1:c.853T>C	NP_001362279.1:p.Phe285Leu
NM_198904.3:c.1273T>C	NP_944494.1:p.Phe425Leu
NM_198904.4:c.1273T>C MANE Select	NP_944494.1:p.Phe425Leu