Canonical Allele Identifier: CA362182339

Gene: GABRG2

Linked Data

• ClinVar Variation Id: 2501942
• ClinVar RCV Id: RCV003228361
• dbSNP Id: rs1489158656
• gnomAD v2: 5-161576135-T-C
• MyVariant Identifiers: chr5:g.161576135T>C (hg19) ; chr5:g.162149129T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162149129T>C , CM000667.2:g.162149129T>C	GRCh38
NC_000005.9:g.161576135T>C , CM000667.1:g.161576135T>C	GRCh37
NC_000005.8:g.161508713T>C	NCBI36
NG_009290.1:g.86488T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356592.8:c.945T>C
ENST00000361925.9:c.1064T>C	ENSP00000354651.5:p.Met355Thr
ENST00000522053.2:n.835T>C
ENST00000523372.2:c.1027T>C
ENST00000638253.1:n.198T>C
ENST00000638552.1:c.659T>C	ENSP00000491763.1:p.Met220Thr
ENST00000638660.1:c.659T>C	ENSP00000492869.1:p.Met220Thr
ENST00000638772.1:c.944T>C	ENSP00000491557.1:p.Met315Thr
ENST00000638877.1:c.821T>C
ENST00000639046.1:c.335T>C	ENSP00000492659.1:p.Met112Thr
ENST00000639111.2:c.944T>C	ENSP00000492125.2:p.Met315Thr
ENST00000639213.2:c.944T>C MANE Select	ENSP00000491909.2:p.Met315Thr
ENST00000639278.1:c.872T>C	ENSP00000491958.1:p.Met291Thr
ENST00000639384.1:c.944T>C	ENSP00000491240.1:p.Met315Thr
ENST00000639424.1:c.*144T>C	ENSP00000491245.1:n.*144T>C
ENST00000639683.1:c.878T>C	ENSP00000492581.1:p.Met293Thr
ENST00000639975.1:c.878T>C	ENSP00000492096.1:p.Met293Thr
ENST00000640500.1:n.242T>C
ENST00000640574.1:c.659T>C	ENSP00000491582.1:p.Met220Thr
ENST00000640739.1:n.3475T>C
ENST00000640910.1:c.382T>C
ENST00000640985.1:c.857T>C	ENSP00000492293.1:p.Met286Thr
ENST00000641017.1:c.944T>C	ENSP00000493461.1:p.Met315Thr
ENST00000356592.7:c.944T>C	ENSP00000349000.3:p.Met315Thr
ENST00000361925.8:c.944T>C	ENSP00000354651.4:p.Met315Thr
ENST00000414552.6:c.1064T>C	ENSP00000410732.2:p.Met355Thr
ENST00000522053.1:c.659T>C	ENSP00000430182.1:p.Met220Thr
ENST00000522990.5:c.*546T>C	ENSP00000430732.1:n.*546T>C
ENST00000523372.1:c.1065T>C	ENSP00000430124.1:n.1065T>C
NM_000816.3:c.944T>C	NP_000807.2:p.Met315Thr
NM_198903.2:c.1064T>C	NP_944493.2:p.Met355Thr
NM_198904.2:c.944T>C	NP_944494.1:p.Met315Thr
NM_001375339.1:c.935T>C	NP_001362268.1:p.Met312Thr
NM_001375340.1:c.923-2601T>C	NP_001362269.1:n.923-2601T>C
NM_001375341.1:c.941T>C	NP_001362270.1:p.Met314Thr
NM_001375342.1:c.941T>C	NP_001362271.1:p.Met314Thr
NM_001375343.1:c.1064T>C	NP_001362272.1:p.Met355Thr
NM_001375344.1:c.983T>C	NP_001362273.1:p.Met328Thr
NM_001375345.1:c.878T>C	NP_001362274.1:p.Met293Thr
NM_001375346.1:c.878T>C	NP_001362275.1:p.Met293Thr
NM_001375347.1:c.857T>C	NP_001362276.1:p.Met286Thr
NM_001375348.1:c.524T>C	NP_001362277.1:p.Met175Thr
NM_001375349.1:c.659T>C	NP_001362278.1:p.Met220Thr
NM_001375350.1:c.524T>C	NP_001362279.1:p.Met175Thr
NM_198904.3:c.944T>C	NP_944494.1:p.Met315Thr
NM_198904.4:c.944T>C MANE Select	NP_944494.1:p.Met315Thr