Canonical Allele Identifier: CA234055

Gene: GABRG2

Linked Data

• ClinVar Variation Id: 167117
• ClinVar RCV Id: RCV000624390 ; RCV000723908 ; RCV001223368
• dbSNP Id: rs727503941
• ExAC: 5:161576301 TAAA / T
• gnomAD v2: 5-161576301-TAAA-T
• gnomAD v3: 5-162149295-TAAA-T
• gnomAD v4: 5-162149295-TAAA-T
• MyVariant Identifiers: chr5:g.161576304_161576306del (hg19) ; chr5:g.161576302_161576304del (hg19) ; chr5:g.161576304_161576306delAAA (hg19) ; chr5:g.162149298_162149300del (hg38) ; chr5:g.162149296_162149298del (hg38)
• PubMed: PMID:11326274 ; PMID:11326275 ; PMID:11748509 ; PMID:12477709 ; PMID:16924025 ; PMID:20485450 ; PMID:20551311 ; PMID:24407264 ; PMID:24480790 ; PMID:25726841 ; PMID:27066572 ; PMID:27340224 ; PMID:27367160 ; PMID:27864268 ; PMID:27899622 ; PMID:28460589

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162149298_162149300del , CM000667.2:g.162149298_162149300del	GRCh38
NC_000005.9:g.161576304_161576306del , CM000667.1:g.161576304_161576306del	GRCh37
NC_000005.8:g.161508882_161508884del	NCBI36
NG_009290.1:g.86657_86659del

Transcript Alleles

HGVS	Amino-acid change
ENST00000356592.8:c.1114_1116del
ENST00000361925.9:c.1233_1235del	ENSP00000354651.5:p.Lys412del
ENST00000523372.2:c.1196_1198del
ENST00000638253.1:n.367_369del
ENST00000638552.1:c.828_830del	ENSP00000491763.1:p.Lys277del
ENST00000638660.1:c.828_830del	ENSP00000492869.1:p.Lys277del
ENST00000638772.1:c.1113_1115del	ENSP00000491557.1:p.Lys372del
ENST00000638877.1:c.990_992del
ENST00000639046.1:c.504_506del	ENSP00000492659.1:p.Lys169del
ENST00000639111.2:c.1113_1115del	ENSP00000492125.2:p.Lys372del
ENST00000639213.2:c.1113_1115del MANE Select	ENSP00000491909.2:p.Lys372del
ENST00000639278.1:c.1041_1043del	ENSP00000491958.1:p.Lys348del
ENST00000639384.1:c.1113_1115del	ENSP00000491240.1:p.Lys372del
ENST00000639424.1:c.*313_*315del	ENSP00000491245.1:n.*313_*315del
ENST00000639683.1:c.1047_1049del	ENSP00000492581.1:p.Lys350del
ENST00000639975.1:c.1047_1049del	ENSP00000492096.1:p.Lys350del
ENST00000640500.1:n.411_413del
ENST00000640574.1:c.828_830del	ENSP00000491582.1:p.Lys277del
ENST00000640739.1:n.3644_3646del
ENST00000640910.1:c.551_553del
ENST00000640985.1:c.1026_1028del	ENSP00000492293.1:p.Lys343del
ENST00000641017.1:c.1113_1115del	ENSP00000493461.1:p.Lys372del
ENST00000356592.7:c.1113_1115del	ENSP00000349000.3:p.Lys372del
ENST00000361925.8:c.1113_1115del	ENSP00000354651.4:p.Lys372del
ENST00000414552.6:c.1233_1235del	ENSP00000410732.2:p.Lys412del
ENST00000522990.5:c.*715_*717del	ENSP00000430732.1:n.*715_*717del
ENST00000523372.1:c.1234_1236del	ENSP00000430124.1:n.1234_1236del
NM_000816.3:c.1113_1115del	NP_000807.2:p.Lys372del
NM_198903.2:c.1233_1235del	NP_944493.2:p.Lys412del
NM_198904.2:c.1113_1115del	NP_944494.1:p.Lys372del
NM_001375339.1:c.1104_1106del	NP_001362268.1:p.Lys369del
NM_001375340.1:c.923-2432_923-2430del	NP_001362269.1:n.923-2432_923-2430del
NM_001375341.1:c.1110_1112del	NP_001362270.1:p.Lys371del
NM_001375342.1:c.1110_1112del	NP_001362271.1:p.Lys371del
NM_001375343.1:c.1233_1235del	NP_001362272.1:p.Lys412del
NM_001375344.1:c.1152_1154del	NP_001362273.1:p.Lys385del
NM_001375345.1:c.1047_1049del	NP_001362274.1:p.Lys350del
NM_001375346.1:c.1047_1049del	NP_001362275.1:p.Lys350del
NM_001375347.1:c.1026_1028del	NP_001362276.1:p.Lys343del
NM_001375348.1:c.693_695del	NP_001362277.1:p.Lys232del
NM_001375349.1:c.828_830del	NP_001362278.1:p.Lys277del
NM_001375350.1:c.693_695del	NP_001362279.1:p.Lys232del
NM_198904.3:c.1113_1115del	NP_944494.1:p.Lys372del
NM_198904.4:c.1113_1115del MANE Select	NP_944494.1:p.Lys372del