Canonical Allele Identifier: CA362183182

Gene: GABRG2

Linked Data

• ClinVar Variation Id: 2114937
• ClinVar RCV Id: RCV003032413
• MyVariant Identifiers: chr5:g.161580102C>G (hg19) ; chr5:g.162153096C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153096C>G , CM000667.2:g.162153096C>G	GRCh38
NC_000005.9:g.161580102C>G , CM000667.1:g.161580102C>G	GRCh37
NC_000005.8:g.161512680C>G	NCBI36
NG_009290.1:g.90455C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356592.8:c.1157C>G
ENST00000361925.9:c.1252C>G	ENSP00000354651.5:p.Pro418Ala
ENST00000523372.2:c.1215C>G
ENST00000638253.1:n.410C>G
ENST00000638552.1:c.847C>G	ENSP00000491763.1:p.Pro283Ala
ENST00000638660.1:c.871C>G	ENSP00000492869.1:p.Pro291Ala
ENST00000638772.1:c.*3753C>G	ENSP00000491557.1:n.*3753C>G
ENST00000638877.1:c.1033C>G
ENST00000639046.1:c.523C>G	ENSP00000492659.1:p.Pro175Ala
ENST00000639111.2:c.1132C>G	ENSP00000492125.2:p.Pro378Ala
ENST00000639213.2:c.1156C>G MANE Select	ENSP00000491909.2:p.Pro386Ala
ENST00000639278.1:c.1819C>G	ENSP00000491958.1:n.1819C>G
ENST00000639384.1:c.*1337C>G	ENSP00000491240.1:n.*1337C>G
ENST00000639424.1:c.*356C>G	ENSP00000491245.1:n.*356C>G
ENST00000639683.1:c.1090C>G	ENSP00000492581.1:p.Pro364Ala
ENST00000639975.1:c.1066C>G	ENSP00000492096.1:p.Pro356Ala
ENST00000640500.1:n.430C>G
ENST00000640739.1:n.6103C>G
ENST00000640910.1:c.594C>G
ENST00000640985.1:c.1069C>G	ENSP00000492293.1:p.Pro357Ala
ENST00000641017.1:c.1225C>G	ENSP00000493461.1:p.Pro409Ala
ENST00000356592.7:c.1156C>G	ENSP00000349000.3:p.Pro386Ala
ENST00000361925.8:c.1132C>G	ENSP00000354651.4:p.Pro378Ala
ENST00000414552.6:c.1276C>G	ENSP00000410732.2:p.Pro426Ala
ENST00000522990.5:c.*734C>G	ENSP00000430732.1:n.*734C>G
ENST00000523372.1:c.1253C>G	ENSP00000430124.1:n.1253C>G
NM_000816.3:c.1132C>G	NP_000807.2:p.Pro378Ala
NM_198903.2:c.1276C>G	NP_944493.2:p.Pro426Ala
NM_198904.2:c.1156C>G	NP_944494.1:p.Pro386Ala
NM_001375339.1:c.1147C>G	NP_001362268.1:p.Pro383Ala
NM_001375340.1:c.950C>G	NP_001362269.1:p.Pro317Arg
NM_001375341.1:c.1153C>G	NP_001362270.1:p.Pro385Ala
NM_001375342.1:c.1129C>G	NP_001362271.1:p.Pro377Ala
NM_001375343.1:c.1252C>G	NP_001362272.1:p.Pro418Ala
NM_001375344.1:c.1195C>G	NP_001362273.1:p.Pro399Ala
NM_001375345.1:c.1066C>G	NP_001362274.1:p.Pro356Ala
NM_001375346.1:c.1090C>G	NP_001362275.1:p.Pro364Ala
NM_001375347.1:c.1069C>G	NP_001362276.1:p.Pro357Ala
NM_001375348.1:c.712C>G	NP_001362277.1:p.Pro238Ala
NM_001375349.1:c.847C>G	NP_001362278.1:p.Pro283Ala
NM_001375350.1:c.736C>G	NP_001362279.1:p.Pro246Ala
NM_198904.3:c.1156C>G	NP_944494.1:p.Pro386Ala
NM_198904.4:c.1156C>G MANE Select	NP_944494.1:p.Pro386Ala