Canonical Allele Identifier: CA362184212

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580357T>G (hg19) ; chr5:g.162153351T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153351T>G , CM000667.2:g.162153351T>G	GRCh38
NC_000005.9:g.161580357T>G , CM000667.1:g.161580357T>G	GRCh37
NC_000005.8:g.161512935T>G	NCBI36
NG_009290.1:g.90710T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1412T>G
ENST00000361925.9:c.1507T>G	ENSP00000354651.5:p.Ser503Ala
ENST00000523372.2:c.1470T>G
ENST00000638253.1:n.665T>G
ENST00000638552.1:c.1102T>G	ENSP00000491763.1:p.Ser368Ala
ENST00000638660.1:c.1126T>G	ENSP00000492869.1:p.Ser376Ala
ENST00000638772.1:c.*4008T>G	ENSP00000491557.1:n.*4008T>G
ENST00000638877.1:c.1288T>G
ENST00000639046.1:c.778T>G	ENSP00000492659.1:p.Ser260Ala
ENST00000639111.2:c.1387T>G	ENSP00000492125.2:p.Ser463Ala
ENST00000639213.2:c.1411T>G MANE Select	ENSP00000491909.2:p.Ser471Ala
ENST00000639278.1:c.2074T>G	ENSP00000491958.1:n.2074T>G
ENST00000639384.1:c.*1592T>G	ENSP00000491240.1:n.*1592T>G
ENST00000639424.1:c.*611T>G	ENSP00000491245.1:n.*611T>G
ENST00000639683.1:c.1345T>G	ENSP00000492581.1:p.Ser449Ala
ENST00000639975.1:c.1321T>G	ENSP00000492096.1:p.Ser441Ala
ENST00000640500.1:n.685T>G
ENST00000640739.1:n.6358T>G
ENST00000640910.1:c.849T>G
ENST00000640985.1:c.1324T>G	ENSP00000492293.1:p.Ser442Ala
ENST00000641017.1:c.1480T>G	ENSP00000493461.1:p.Ser494Ala
ENST00000356592.7:c.1411T>G	ENSP00000349000.3:p.Ser471Ala
ENST00000361925.8:c.1387T>G	ENSP00000354651.4:p.Ser463Ala
ENST00000414552.6:c.1531T>G	ENSP00000410732.2:p.Ser511Ala
ENST00000522990.5:c.*989T>G	ENSP00000430732.1:n.*989T>G
ENST00000523372.1:c.1508T>G	ENSP00000430124.1:n.1508T>G
NM_000816.3:c.1387T>G	NP_000807.2:p.Ser463Ala
NM_198903.2:c.1531T>G	NP_944493.2:p.Ser511Ala
NM_198904.2:c.1411T>G	NP_944494.1:p.Ser471Ala
NM_001375339.1:c.1402T>G	NP_001362268.1:p.Ser468Ala
NM_001375340.1:c.*245T>G	NP_001362269.1:n.*245T>G
NM_001375341.1:c.1408T>G	NP_001362270.1:p.Ser470Ala
NM_001375342.1:c.1384T>G	NP_001362271.1:p.Ser462Ala
NM_001375343.1:c.1507T>G	NP_001362272.1:p.Ser503Ala
NM_001375344.1:c.1450T>G	NP_001362273.1:p.Ser484Ala
NM_001375345.1:c.1321T>G	NP_001362274.1:p.Ser441Ala
NM_001375346.1:c.1345T>G	NP_001362275.1:p.Ser449Ala
NM_001375347.1:c.1324T>G	NP_001362276.1:p.Ser442Ala
NM_001375348.1:c.967T>G	NP_001362277.1:p.Ser323Ala
NM_001375349.1:c.1102T>G	NP_001362278.1:p.Ser368Ala
NM_001375350.1:c.991T>G	NP_001362279.1:p.Ser331Ala
NM_198904.3:c.1411T>G	NP_944494.1:p.Ser471Ala
NM_198904.4:c.1411T>G MANE Select	NP_944494.1:p.Ser471Ala