Canonical Allele Identifier: CA362184015

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580316T>C (hg19) ; chr5:g.162153310T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153310T>C , CM000667.2:g.162153310T>C	GRCh38
NC_000005.9:g.161580316T>C , CM000667.1:g.161580316T>C	GRCh37
NC_000005.8:g.161512894T>C	NCBI36
NG_009290.1:g.90669T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1371T>C
ENST00000361925.9:c.1466T>C	ENSP00000354651.5:p.Phe489Ser
ENST00000523372.2:c.1429T>C
ENST00000638253.1:n.624T>C
ENST00000638552.1:c.1061T>C	ENSP00000491763.1:p.Phe354Ser
ENST00000638660.1:c.1085T>C	ENSP00000492869.1:p.Phe362Ser
ENST00000638772.1:c.*3967T>C	ENSP00000491557.1:n.*3967T>C
ENST00000638877.1:c.1247T>C
ENST00000639046.1:c.737T>C	ENSP00000492659.1:p.Phe246Ser
ENST00000639111.2:c.1346T>C	ENSP00000492125.2:p.Phe449Ser
ENST00000639213.2:c.1370T>C MANE Select	ENSP00000491909.2:p.Phe457Ser
ENST00000639278.1:c.2033T>C	ENSP00000491958.1:n.2033T>C
ENST00000639384.1:c.*1551T>C	ENSP00000491240.1:n.*1551T>C
ENST00000639424.1:c.*570T>C	ENSP00000491245.1:n.*570T>C
ENST00000639683.1:c.1304T>C	ENSP00000492581.1:p.Phe435Ser
ENST00000639975.1:c.1280T>C	ENSP00000492096.1:p.Phe427Ser
ENST00000640500.1:n.644T>C
ENST00000640739.1:n.6317T>C
ENST00000640910.1:c.808T>C
ENST00000640985.1:c.1283T>C	ENSP00000492293.1:p.Phe428Ser
ENST00000641017.1:c.1439T>C	ENSP00000493461.1:p.Phe480Ser
ENST00000356592.7:c.1370T>C	ENSP00000349000.3:p.Phe457Ser
ENST00000361925.8:c.1346T>C	ENSP00000354651.4:p.Phe449Ser
ENST00000414552.6:c.1490T>C	ENSP00000410732.2:p.Phe497Ser
ENST00000522990.5:c.*948T>C	ENSP00000430732.1:n.*948T>C
ENST00000523372.1:c.1467T>C	ENSP00000430124.1:n.1467T>C
NM_000816.3:c.1346T>C	NP_000807.2:p.Phe449Ser
NM_198903.2:c.1490T>C	NP_944493.2:p.Phe497Ser
NM_198904.2:c.1370T>C	NP_944494.1:p.Phe457Ser
NM_001375339.1:c.1361T>C	NP_001362268.1:p.Phe454Ser
NM_001375340.1:c.*204T>C	NP_001362269.1:n.*204T>C
NM_001375341.1:c.1367T>C	NP_001362270.1:p.Phe456Ser
NM_001375342.1:c.1343T>C	NP_001362271.1:p.Phe448Ser
NM_001375343.1:c.1466T>C	NP_001362272.1:p.Phe489Ser
NM_001375344.1:c.1409T>C	NP_001362273.1:p.Phe470Ser
NM_001375345.1:c.1280T>C	NP_001362274.1:p.Phe427Ser
NM_001375346.1:c.1304T>C	NP_001362275.1:p.Phe435Ser
NM_001375347.1:c.1283T>C	NP_001362276.1:p.Phe428Ser
NM_001375348.1:c.926T>C	NP_001362277.1:p.Phe309Ser
NM_001375349.1:c.1061T>C	NP_001362278.1:p.Phe354Ser
NM_001375350.1:c.950T>C	NP_001362279.1:p.Phe317Ser
NM_198904.3:c.1370T>C	NP_944494.1:p.Phe457Ser
NM_198904.4:c.1370T>C MANE Select	NP_944494.1:p.Phe457Ser