Canonical Allele Identifier: CA362183579

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580206G>C (hg19) ; chr5:g.162153200G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153200G>C , CM000667.2:g.162153200G>C	GRCh38
NC_000005.9:g.161580206G>C , CM000667.1:g.161580206G>C	GRCh37
NC_000005.8:g.161512784G>C	NCBI36
NG_009290.1:g.90559G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1261G>C
ENST00000361925.9:c.1356G>C	ENSP00000354651.5:p.Lys452Asn
ENST00000523372.2:c.1319G>C
ENST00000638253.1:n.514G>C
ENST00000638552.1:c.951G>C	ENSP00000491763.1:p.Lys317Asn
ENST00000638660.1:c.975G>C	ENSP00000492869.1:p.Lys325Asn
ENST00000638772.1:c.*3857G>C	ENSP00000491557.1:n.*3857G>C
ENST00000638877.1:c.1137G>C
ENST00000639046.1:c.627G>C	ENSP00000492659.1:p.Lys209Asn
ENST00000639111.2:c.1236G>C	ENSP00000492125.2:p.Lys412Asn
ENST00000639213.2:c.1260G>C MANE Select	ENSP00000491909.2:p.Lys420Asn
ENST00000639278.1:c.1923G>C	ENSP00000491958.1:n.1923G>C
ENST00000639384.1:c.*1441G>C	ENSP00000491240.1:n.*1441G>C
ENST00000639424.1:c.*460G>C	ENSP00000491245.1:n.*460G>C
ENST00000639683.1:c.1194G>C	ENSP00000492581.1:p.Lys398Asn
ENST00000639975.1:c.1170G>C	ENSP00000492096.1:p.Lys390Asn
ENST00000640500.1:n.534G>C
ENST00000640739.1:n.6207G>C
ENST00000640910.1:c.698G>C
ENST00000640985.1:c.1173G>C	ENSP00000492293.1:p.Lys391Asn
ENST00000641017.1:c.1329G>C	ENSP00000493461.1:p.Lys443Asn
ENST00000356592.7:c.1260G>C	ENSP00000349000.3:p.Lys420Asn
ENST00000361925.8:c.1236G>C	ENSP00000354651.4:p.Lys412Asn
ENST00000414552.6:c.1380G>C	ENSP00000410732.2:p.Lys460Asn
ENST00000522990.5:c.*838G>C	ENSP00000430732.1:n.*838G>C
ENST00000523372.1:c.1357G>C	ENSP00000430124.1:n.1357G>C
NM_000816.3:c.1236G>C	NP_000807.2:p.Lys412Asn
NM_198903.2:c.1380G>C	NP_944493.2:p.Lys460Asn
NM_198904.2:c.1260G>C	NP_944494.1:p.Lys420Asn
NM_001375339.1:c.1251G>C	NP_001362268.1:p.Lys417Asn
NM_001375340.1:c.*94G>C	NP_001362269.1:n.*94G>C
NM_001375341.1:c.1257G>C	NP_001362270.1:p.Lys419Asn
NM_001375342.1:c.1233G>C	NP_001362271.1:p.Lys411Asn
NM_001375343.1:c.1356G>C	NP_001362272.1:p.Lys452Asn
NM_001375344.1:c.1299G>C	NP_001362273.1:p.Lys433Asn
NM_001375345.1:c.1170G>C	NP_001362274.1:p.Lys390Asn
NM_001375346.1:c.1194G>C	NP_001362275.1:p.Lys398Asn
NM_001375347.1:c.1173G>C	NP_001362276.1:p.Lys391Asn
NM_001375348.1:c.816G>C	NP_001362277.1:p.Lys272Asn
NM_001375349.1:c.951G>C	NP_001362278.1:p.Lys317Asn
NM_001375350.1:c.840G>C	NP_001362279.1:p.Lys280Asn
NM_198904.3:c.1260G>C	NP_944494.1:p.Lys420Asn
NM_198904.4:c.1260G>C MANE Select	NP_944494.1:p.Lys420Asn