Canonical Allele Identifier: CA362184123

Gene: GABRG2

Linked Data

• ClinVar Variation Id: 1198919
• ClinVar RCV Id: RCV001563241
• dbSNP Id: rs2113651504
• gnomAD v4: 5-162153334-A-G
• MyVariant Identifiers: chr5:g.161580340A>G (hg19) ; chr5:g.162153334A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153334A>G , CM000667.2:g.162153334A>G	GRCh38
NC_000005.9:g.161580340A>G , CM000667.1:g.161580340A>G	GRCh37
NC_000005.8:g.161512918A>G	NCBI36
NG_009290.1:g.90693A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1395A>G
ENST00000361925.9:c.1490A>G	ENSP00000354651.5:p.Asn497Ser
ENST00000523372.2:c.1453A>G
ENST00000638253.1:n.648A>G
ENST00000638552.1:c.1085A>G	ENSP00000491763.1:p.Asn362Ser
ENST00000638660.1:c.1109A>G	ENSP00000492869.1:p.Asn370Ser
ENST00000638772.1:c.*3991A>G	ENSP00000491557.1:n.*3991A>G
ENST00000638877.1:c.1271A>G
ENST00000639046.1:c.761A>G	ENSP00000492659.1:p.Asn254Ser
ENST00000639111.2:c.1370A>G	ENSP00000492125.2:p.Asn457Ser
ENST00000639213.2:c.1394A>G MANE Select	ENSP00000491909.2:p.Asn465Ser
ENST00000639278.1:c.2057A>G	ENSP00000491958.1:n.2057A>G
ENST00000639384.1:c.*1575A>G	ENSP00000491240.1:n.*1575A>G
ENST00000639424.1:c.*594A>G	ENSP00000491245.1:n.*594A>G
ENST00000639683.1:c.1328A>G	ENSP00000492581.1:p.Asn443Ser
ENST00000639975.1:c.1304A>G	ENSP00000492096.1:p.Asn435Ser
ENST00000640500.1:n.668A>G
ENST00000640739.1:n.6341A>G
ENST00000640910.1:c.832A>G
ENST00000640985.1:c.1307A>G	ENSP00000492293.1:p.Asn436Ser
ENST00000641017.1:c.1463A>G	ENSP00000493461.1:p.Asn488Ser
ENST00000356592.7:c.1394A>G	ENSP00000349000.3:p.Asn465Ser
ENST00000361925.8:c.1370A>G	ENSP00000354651.4:p.Asn457Ser
ENST00000414552.6:c.1514A>G	ENSP00000410732.2:p.Asn505Ser
ENST00000522990.5:c.*972A>G	ENSP00000430732.1:n.*972A>G
ENST00000523372.1:c.1491A>G	ENSP00000430124.1:n.1491A>G
NM_000816.3:c.1370A>G	NP_000807.2:p.Asn457Ser
NM_198903.2:c.1514A>G	NP_944493.2:p.Asn505Ser
NM_198904.2:c.1394A>G	NP_944494.1:p.Asn465Ser
NM_001375339.1:c.1385A>G	NP_001362268.1:p.Asn462Ser
NM_001375340.1:c.*228A>G	NP_001362269.1:n.*228A>G
NM_001375341.1:c.1391A>G	NP_001362270.1:p.Asn464Ser
NM_001375342.1:c.1367A>G	NP_001362271.1:p.Asn456Ser
NM_001375343.1:c.1490A>G	NP_001362272.1:p.Asn497Ser
NM_001375344.1:c.1433A>G	NP_001362273.1:p.Asn478Ser
NM_001375345.1:c.1304A>G	NP_001362274.1:p.Asn435Ser
NM_001375346.1:c.1328A>G	NP_001362275.1:p.Asn443Ser
NM_001375347.1:c.1307A>G	NP_001362276.1:p.Asn436Ser
NM_001375348.1:c.950A>G	NP_001362277.1:p.Asn317Ser
NM_001375349.1:c.1085A>G	NP_001362278.1:p.Asn362Ser
NM_001375350.1:c.974A>G	NP_001362279.1:p.Asn325Ser
NM_198904.3:c.1394A>G	NP_944494.1:p.Asn465Ser
NM_198904.4:c.1394A>G MANE Select	NP_944494.1:p.Asn465Ser