Canonical Allele Identifier: CA362183961

Gene: GABRG2

Linked Data

• gnomAD v4: 5-162153297-G-T
• MyVariant Identifiers: chr5:g.161580303G>T (hg19) ; chr5:g.162153297G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153297G>T , CM000667.2:g.162153297G>T	GRCh38
NC_000005.9:g.161580303G>T , CM000667.1:g.161580303G>T	GRCh37
NC_000005.8:g.161512881G>T	NCBI36
NG_009290.1:g.90656G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1358G>T
ENST00000361925.9:c.1453G>T	ENSP00000354651.5:p.Ala485Ser
ENST00000523372.2:c.1416G>T
ENST00000638253.1:n.611G>T
ENST00000638552.1:c.1048G>T	ENSP00000491763.1:p.Ala350Ser
ENST00000638660.1:c.1072G>T	ENSP00000492869.1:p.Ala358Ser
ENST00000638772.1:c.*3954G>T	ENSP00000491557.1:n.*3954G>T
ENST00000638877.1:c.1234G>T
ENST00000639046.1:c.724G>T	ENSP00000492659.1:p.Ala242Ser
ENST00000639111.2:c.1333G>T	ENSP00000492125.2:p.Ala445Ser
ENST00000639213.2:c.1357G>T MANE Select	ENSP00000491909.2:p.Ala453Ser
ENST00000639278.1:c.2020G>T	ENSP00000491958.1:n.2020G>T
ENST00000639384.1:c.*1538G>T	ENSP00000491240.1:n.*1538G>T
ENST00000639424.1:c.*557G>T	ENSP00000491245.1:n.*557G>T
ENST00000639683.1:c.1291G>T	ENSP00000492581.1:p.Ala431Ser
ENST00000639975.1:c.1267G>T	ENSP00000492096.1:p.Ala423Ser
ENST00000640500.1:n.631G>T
ENST00000640739.1:n.6304G>T
ENST00000640910.1:c.795G>T
ENST00000640985.1:c.1270G>T	ENSP00000492293.1:p.Ala424Ser
ENST00000641017.1:c.1426G>T	ENSP00000493461.1:p.Ala476Ser
ENST00000356592.7:c.1357G>T	ENSP00000349000.3:p.Ala453Ser
ENST00000361925.8:c.1333G>T	ENSP00000354651.4:p.Ala445Ser
ENST00000414552.6:c.1477G>T	ENSP00000410732.2:p.Ala493Ser
ENST00000522990.5:c.*935G>T	ENSP00000430732.1:n.*935G>T
ENST00000523372.1:c.1454G>T	ENSP00000430124.1:n.1454G>T
NM_000816.3:c.1333G>T	NP_000807.2:p.Ala445Ser
NM_198903.2:c.1477G>T	NP_944493.2:p.Ala493Ser
NM_198904.2:c.1357G>T	NP_944494.1:p.Ala453Ser
NM_001375339.1:c.1348G>T	NP_001362268.1:p.Ala450Ser
NM_001375340.1:c.*191G>T	NP_001362269.1:n.*191G>T
NM_001375341.1:c.1354G>T	NP_001362270.1:p.Ala452Ser
NM_001375342.1:c.1330G>T	NP_001362271.1:p.Ala444Ser
NM_001375343.1:c.1453G>T	NP_001362272.1:p.Ala485Ser
NM_001375344.1:c.1396G>T	NP_001362273.1:p.Ala466Ser
NM_001375345.1:c.1267G>T	NP_001362274.1:p.Ala423Ser
NM_001375346.1:c.1291G>T	NP_001362275.1:p.Ala431Ser
NM_001375347.1:c.1270G>T	NP_001362276.1:p.Ala424Ser
NM_001375348.1:c.913G>T	NP_001362277.1:p.Ala305Ser
NM_001375349.1:c.1048G>T	NP_001362278.1:p.Ala350Ser
NM_001375350.1:c.937G>T	NP_001362279.1:p.Ala313Ser
NM_198904.3:c.1357G>T	NP_944494.1:p.Ala453Ser
NM_198904.4:c.1357G>T MANE Select	NP_944494.1:p.Ala453Ser