Canonical Allele Identifier: CA447692015

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580341T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153335T>C , CM000667.2:g.162153335T>C	GRCh38
NC_000005.9:g.161580341T>C , CM000667.1:g.161580341T>C	GRCh37
NC_000005.8:g.161512919T>C	NCBI36
NG_009290.1:g.90694T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1396T>C
ENST00000361925.9:c.1491T>C	ENSP00000354651.5:p.Asn497=
ENST00000523372.2:c.1454T>C
ENST00000638253.1:n.649T>C
ENST00000638552.1:c.1086T>C	ENSP00000491763.1:p.Asn362=
ENST00000638660.1:c.1110T>C	ENSP00000492869.1:p.Asn370=
ENST00000638772.1:c.*3992T>C	ENSP00000491557.1:n.*3992T>C
ENST00000638877.1:c.1272T>C
ENST00000639046.1:c.762T>C	ENSP00000492659.1:p.Asn254=
ENST00000639111.2:c.1371T>C	ENSP00000492125.2:p.Asn457=
ENST00000639213.2:c.1395T>C MANE Select	ENSP00000491909.2:p.Asn465=
ENST00000639278.1:c.2058T>C	ENSP00000491958.1:n.2058T>C
ENST00000639384.1:c.*1576T>C	ENSP00000491240.1:n.*1576T>C
ENST00000639424.1:c.*595T>C	ENSP00000491245.1:n.*595T>C
ENST00000639683.1:c.1329T>C	ENSP00000492581.1:p.Asn443=
ENST00000639975.1:c.1305T>C	ENSP00000492096.1:p.Asn435=
ENST00000640500.1:n.669T>C
ENST00000640739.1:n.6342T>C
ENST00000640910.1:c.833T>C
ENST00000640985.1:c.1308T>C	ENSP00000492293.1:p.Asn436=
ENST00000641017.1:c.1464T>C	ENSP00000493461.1:p.Asn488=
ENST00000356592.7:c.1395T>C	ENSP00000349000.3:p.Asn465=
ENST00000361925.8:c.1371T>C	ENSP00000354651.4:p.Asn457=
ENST00000414552.6:c.1515T>C	ENSP00000410732.2:p.Asn505=
ENST00000522990.5:c.*973T>C	ENSP00000430732.1:n.*973T>C
ENST00000523372.1:c.1492T>C	ENSP00000430124.1:n.1492T>C
NM_000816.3:c.1371T>C	NP_000807.2:p.Asn457=
NM_198903.2:c.1515T>C	NP_944493.2:p.Asn505=
NM_198904.2:c.1395T>C	NP_944494.1:p.Asn465=
NM_001375339.1:c.1386T>C	NP_001362268.1:p.Asn462=
NM_001375340.1:c.*229T>C	NP_001362269.1:n.*229T>C
NM_001375341.1:c.1392T>C	NP_001362270.1:p.Asn464=
NM_001375342.1:c.1368T>C	NP_001362271.1:p.Asn456=
NM_001375343.1:c.1491T>C	NP_001362272.1:p.Asn497=
NM_001375344.1:c.1434T>C	NP_001362273.1:p.Asn478=
NM_001375345.1:c.1305T>C	NP_001362274.1:p.Asn435=
NM_001375346.1:c.1329T>C	NP_001362275.1:p.Asn443=
NM_001375347.1:c.1308T>C	NP_001362276.1:p.Asn436=
NM_001375348.1:c.951T>C	NP_001362277.1:p.Asn317=
NM_001375349.1:c.1086T>C	NP_001362278.1:p.Asn362=
NM_001375350.1:c.975T>C	NP_001362279.1:p.Asn325=
NM_198904.3:c.1395T>C	NP_944494.1:p.Asn465=
NM_198904.4:c.1395T>C MANE Select	NP_944494.1:p.Asn465=