Canonical Allele Identifier: CA362184156
Gene: GABRG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.162153342T>C , CM000667.2:g.162153342T>C GRCh38
NC_000005.9:g.161580348T>C , CM000667.1:g.161580348T>C GRCh37
NC_000005.8:g.161512926T>C NCBI36
NG_009290.1:g.90701T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356592.8:c.1403T>C
ENST00000361925.9:c.1498T>C ENSP00000354651.5:p.Tyr500His
ENST00000523372.2:c.1461T>C
ENST00000638253.1:n.656T>C
ENST00000638552.1:c.1093T>C ENSP00000491763.1:p.Tyr365His
ENST00000638660.1:c.1117T>C ENSP00000492869.1:p.Tyr373His
ENST00000638772.1:c.*3999T>C ENSP00000491557.1:n.*3999T>C
ENST00000638877.1:c.1279T>C
ENST00000639046.1:c.769T>C ENSP00000492659.1:p.Tyr257His
ENST00000639111.2:c.1378T>C ENSP00000492125.2:p.Tyr460His
ENST00000639213.2:c.1402T>C MANE Select ENSP00000491909.2:p.Tyr468His
ENST00000639278.1:c.2065T>C ENSP00000491958.1:n.2065T>C
ENST00000639384.1:c.*1583T>C ENSP00000491240.1:n.*1583T>C
ENST00000639424.1:c.*602T>C ENSP00000491245.1:n.*602T>C
ENST00000639683.1:c.1336T>C ENSP00000492581.1:p.Tyr446His
ENST00000639975.1:c.1312T>C ENSP00000492096.1:p.Tyr438His
ENST00000640500.1:n.676T>C
ENST00000640739.1:n.6349T>C
ENST00000640910.1:c.840T>C
ENST00000640985.1:c.1315T>C ENSP00000492293.1:p.Tyr439His
ENST00000641017.1:c.1471T>C ENSP00000493461.1:p.Tyr491His
ENST00000356592.7:c.1402T>C ENSP00000349000.3:p.Tyr468His
ENST00000361925.8:c.1378T>C ENSP00000354651.4:p.Tyr460His
ENST00000414552.6:c.1522T>C ENSP00000410732.2:p.Tyr508His
ENST00000522990.5:c.*980T>C ENSP00000430732.1:n.*980T>C
ENST00000523372.1:c.1499T>C ENSP00000430124.1:n.1499T>C
NM_000816.3:c.1378T>C NP_000807.2:p.Tyr460His
NM_198903.2:c.1522T>C NP_944493.2:p.Tyr508His
NM_198904.2:c.1402T>C NP_944494.1:p.Tyr468His
NM_001375339.1:c.1393T>C NP_001362268.1:p.Tyr465His
NM_001375340.1:c.*236T>C NP_001362269.1:n.*236T>C
NM_001375341.1:c.1399T>C NP_001362270.1:p.Tyr467His
NM_001375342.1:c.1375T>C NP_001362271.1:p.Tyr459His
NM_001375343.1:c.1498T>C NP_001362272.1:p.Tyr500His
NM_001375344.1:c.1441T>C NP_001362273.1:p.Tyr481His
NM_001375345.1:c.1312T>C NP_001362274.1:p.Tyr438His
NM_001375346.1:c.1336T>C NP_001362275.1:p.Tyr446His
NM_001375347.1:c.1315T>C NP_001362276.1:p.Tyr439His
NM_001375348.1:c.958T>C NP_001362277.1:p.Tyr320His
NM_001375349.1:c.1093T>C NP_001362278.1:p.Tyr365His
NM_001375350.1:c.982T>C NP_001362279.1:p.Tyr328His
NM_198904.3:c.1402T>C NP_944494.1:p.Tyr468His
NM_198904.4:c.1402T>C MANE Select NP_944494.1:p.Tyr468His