Canonical Allele Identifier: CA362184215

Gene: GABRG2

Linked Data

• gnomAD v4: 5-162153352-C-T
• MyVariant Identifiers: chr5:g.161580358C>T (hg19) ; chr5:g.162153352C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153352C>T , CM000667.2:g.162153352C>T	GRCh38
NC_000005.9:g.161580358C>T , CM000667.1:g.161580358C>T	GRCh37
NC_000005.8:g.161512936C>T	NCBI36
NG_009290.1:g.90711C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1413C>T
ENST00000361925.9:c.1508C>T	ENSP00000354651.5:p.Ser503Phe
ENST00000523372.2:c.1471C>T
ENST00000638253.1:n.666C>T
ENST00000638552.1:c.1103C>T	ENSP00000491763.1:p.Ser368Phe
ENST00000638660.1:c.1127C>T	ENSP00000492869.1:p.Ser376Phe
ENST00000638772.1:c.*4009C>T	ENSP00000491557.1:n.*4009C>T
ENST00000638877.1:c.1289C>T
ENST00000639046.1:c.779C>T	ENSP00000492659.1:p.Ser260Phe
ENST00000639111.2:c.1388C>T	ENSP00000492125.2:p.Ser463Phe
ENST00000639213.2:c.1412C>T MANE Select	ENSP00000491909.2:p.Ser471Phe
ENST00000639278.1:c.2075C>T	ENSP00000491958.1:n.2075C>T
ENST00000639384.1:c.*1593C>T	ENSP00000491240.1:n.*1593C>T
ENST00000639424.1:c.*612C>T	ENSP00000491245.1:n.*612C>T
ENST00000639683.1:c.1346C>T	ENSP00000492581.1:p.Ser449Phe
ENST00000639975.1:c.1322C>T	ENSP00000492096.1:p.Ser441Phe
ENST00000640500.1:n.686C>T
ENST00000640739.1:n.6359C>T
ENST00000640910.1:c.850C>T
ENST00000640985.1:c.1325C>T	ENSP00000492293.1:p.Ser442Phe
ENST00000641017.1:c.1481C>T	ENSP00000493461.1:p.Ser494Phe
ENST00000356592.7:c.1412C>T	ENSP00000349000.3:p.Ser471Phe
ENST00000361925.8:c.1388C>T	ENSP00000354651.4:p.Ser463Phe
ENST00000414552.6:c.1532C>T	ENSP00000410732.2:p.Ser511Phe
ENST00000522990.5:c.*990C>T	ENSP00000430732.1:n.*990C>T
ENST00000523372.1:c.1509C>T	ENSP00000430124.1:n.1509C>T
NM_000816.3:c.1388C>T	NP_000807.2:p.Ser463Phe
NM_198903.2:c.1532C>T	NP_944493.2:p.Ser511Phe
NM_198904.2:c.1412C>T	NP_944494.1:p.Ser471Phe
NM_001375339.1:c.1403C>T	NP_001362268.1:p.Ser468Phe
NM_001375340.1:c.*246C>T	NP_001362269.1:n.*246C>T
NM_001375341.1:c.1409C>T	NP_001362270.1:p.Ser470Phe
NM_001375342.1:c.1385C>T	NP_001362271.1:p.Ser462Phe
NM_001375343.1:c.1508C>T	NP_001362272.1:p.Ser503Phe
NM_001375344.1:c.1451C>T	NP_001362273.1:p.Ser484Phe
NM_001375345.1:c.1322C>T	NP_001362274.1:p.Ser441Phe
NM_001375346.1:c.1346C>T	NP_001362275.1:p.Ser449Phe
NM_001375347.1:c.1325C>T	NP_001362276.1:p.Ser442Phe
NM_001375348.1:c.968C>T	NP_001362277.1:p.Ser323Phe
NM_001375349.1:c.1103C>T	NP_001362278.1:p.Ser368Phe
NM_001375350.1:c.992C>T	NP_001362279.1:p.Ser331Phe
NM_198904.3:c.1412C>T	NP_944494.1:p.Ser471Phe
NM_198904.4:c.1412C>T MANE Select	NP_944494.1:p.Ser471Phe