Canonical Allele Identifier: CA362184146

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580345G>C (hg19) ; chr5:g.162153339G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153339G>C , CM000667.2:g.162153339G>C	GRCh38
NC_000005.9:g.161580345G>C , CM000667.1:g.161580345G>C	GRCh37
NC_000005.8:g.161512923G>C	NCBI36
NG_009290.1:g.90698G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1400G>C
ENST00000361925.9:c.1495G>C	ENSP00000354651.5:p.Val499Leu
ENST00000523372.2:c.1458G>C
ENST00000638253.1:n.653G>C
ENST00000638552.1:c.1090G>C	ENSP00000491763.1:p.Val364Leu
ENST00000638660.1:c.1114G>C	ENSP00000492869.1:p.Val372Leu
ENST00000638772.1:c.*3996G>C	ENSP00000491557.1:n.*3996G>C
ENST00000638877.1:c.1276G>C
ENST00000639046.1:c.766G>C	ENSP00000492659.1:p.Val256Leu
ENST00000639111.2:c.1375G>C	ENSP00000492125.2:p.Val459Leu
ENST00000639213.2:c.1399G>C MANE Select	ENSP00000491909.2:p.Val467Leu
ENST00000639278.1:c.2062G>C	ENSP00000491958.1:n.2062G>C
ENST00000639384.1:c.*1580G>C	ENSP00000491240.1:n.*1580G>C
ENST00000639424.1:c.*599G>C	ENSP00000491245.1:n.*599G>C
ENST00000639683.1:c.1333G>C	ENSP00000492581.1:p.Val445Leu
ENST00000639975.1:c.1309G>C	ENSP00000492096.1:p.Val437Leu
ENST00000640500.1:n.673G>C
ENST00000640739.1:n.6346G>C
ENST00000640910.1:c.837G>C
ENST00000640985.1:c.1312G>C	ENSP00000492293.1:p.Val438Leu
ENST00000641017.1:c.1468G>C	ENSP00000493461.1:p.Val490Leu
ENST00000356592.7:c.1399G>C	ENSP00000349000.3:p.Val467Leu
ENST00000361925.8:c.1375G>C	ENSP00000354651.4:p.Val459Leu
ENST00000414552.6:c.1519G>C	ENSP00000410732.2:p.Val507Leu
ENST00000522990.5:c.*977G>C	ENSP00000430732.1:n.*977G>C
ENST00000523372.1:c.1496G>C	ENSP00000430124.1:n.1496G>C
NM_000816.3:c.1375G>C	NP_000807.2:p.Val459Leu
NM_198903.2:c.1519G>C	NP_944493.2:p.Val507Leu
NM_198904.2:c.1399G>C	NP_944494.1:p.Val467Leu
NM_001375339.1:c.1390G>C	NP_001362268.1:p.Val464Leu
NM_001375340.1:c.*233G>C	NP_001362269.1:n.*233G>C
NM_001375341.1:c.1396G>C	NP_001362270.1:p.Val466Leu
NM_001375342.1:c.1372G>C	NP_001362271.1:p.Val458Leu
NM_001375343.1:c.1495G>C	NP_001362272.1:p.Val499Leu
NM_001375344.1:c.1438G>C	NP_001362273.1:p.Val480Leu
NM_001375345.1:c.1309G>C	NP_001362274.1:p.Val437Leu
NM_001375346.1:c.1333G>C	NP_001362275.1:p.Val445Leu
NM_001375347.1:c.1312G>C	NP_001362276.1:p.Val438Leu
NM_001375348.1:c.955G>C	NP_001362277.1:p.Val319Leu
NM_001375349.1:c.1090G>C	NP_001362278.1:p.Val364Leu
NM_001375350.1:c.979G>C	NP_001362279.1:p.Val327Leu
NM_198904.3:c.1399G>C	NP_944494.1:p.Val467Leu
NM_198904.4:c.1399G>C MANE Select	NP_944494.1:p.Val467Leu