Canonical Allele Identifier: CA362184261

Gene: GABRG2

Linked Data

• COSMIC: COSM377962
• MyVariant Identifiers: chr5:g.161580367A>C (hg19) ; chr5:g.162153361A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153361A>C , CM000667.2:g.162153361A>C	GRCh38
NC_000005.9:g.161580367A>C , CM000667.1:g.161580367A>C	GRCh37
NC_000005.8:g.161512945A>C	NCBI36
NG_009290.1:g.90720A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1422A>C
ENST00000361925.9:c.1517A>C	ENSP00000354651.5:p.Tyr506Ser
ENST00000523372.2:c.1480A>C
ENST00000638253.1:n.675A>C
ENST00000638552.1:c.1112A>C	ENSP00000491763.1:p.Tyr371Ser
ENST00000638660.1:c.1136A>C	ENSP00000492869.1:p.Tyr379Ser
ENST00000638772.1:c.*4018A>C	ENSP00000491557.1:n.*4018A>C
ENST00000638877.1:c.1298A>C
ENST00000639046.1:c.788A>C	ENSP00000492659.1:p.Tyr263Ser
ENST00000639111.2:c.1397A>C	ENSP00000492125.2:p.Tyr466Ser
ENST00000639213.2:c.1421A>C MANE Select	ENSP00000491909.2:p.Tyr474Ser
ENST00000639278.1:c.2084A>C	ENSP00000491958.1:n.2084A>C
ENST00000639384.1:c.*1602A>C	ENSP00000491240.1:n.*1602A>C
ENST00000639424.1:c.*621A>C	ENSP00000491245.1:n.*621A>C
ENST00000639683.1:c.1355A>C	ENSP00000492581.1:p.Tyr452Ser
ENST00000639975.1:c.1331A>C	ENSP00000492096.1:p.Tyr444Ser
ENST00000640500.1:n.695A>C
ENST00000640739.1:n.6368A>C
ENST00000640910.1:c.859A>C
ENST00000640985.1:c.1334A>C	ENSP00000492293.1:p.Tyr445Ser
ENST00000641017.1:c.1490A>C	ENSP00000493461.1:p.Tyr497Ser
ENST00000356592.7:c.1421A>C	ENSP00000349000.3:p.Tyr474Ser
ENST00000361925.8:c.1397A>C	ENSP00000354651.4:p.Tyr466Ser
ENST00000414552.6:c.1541A>C	ENSP00000410732.2:p.Tyr514Ser
ENST00000522990.5:c.*999A>C	ENSP00000430732.1:n.*999A>C
ENST00000523372.1:c.1518A>C	ENSP00000430124.1:n.1518A>C
NM_000816.3:c.1397A>C	NP_000807.2:p.Tyr466Ser
NM_198903.2:c.1541A>C	NP_944493.2:p.Tyr514Ser
NM_198904.2:c.1421A>C	NP_944494.1:p.Tyr474Ser
NM_001375339.1:c.1412A>C	NP_001362268.1:p.Tyr471Ser
NM_001375340.1:c.*255A>C	NP_001362269.1:n.*255A>C
NM_001375341.1:c.1418A>C	NP_001362270.1:p.Tyr473Ser
NM_001375342.1:c.1394A>C	NP_001362271.1:p.Tyr465Ser
NM_001375343.1:c.1517A>C	NP_001362272.1:p.Tyr506Ser
NM_001375344.1:c.1460A>C	NP_001362273.1:p.Tyr487Ser
NM_001375345.1:c.1331A>C	NP_001362274.1:p.Tyr444Ser
NM_001375346.1:c.1355A>C	NP_001362275.1:p.Tyr452Ser
NM_001375347.1:c.1334A>C	NP_001362276.1:p.Tyr445Ser
NM_001375348.1:c.977A>C	NP_001362277.1:p.Tyr326Ser
NM_001375349.1:c.1112A>C	NP_001362278.1:p.Tyr371Ser
NM_001375350.1:c.1001A>C	NP_001362279.1:p.Tyr334Ser
NM_198904.3:c.1421A>C	NP_944494.1:p.Tyr474Ser
NM_198904.4:c.1421A>C MANE Select	NP_944494.1:p.Tyr474Ser