Canonical Allele Identifier: CA3920383

Gene: GABRR2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.89271680A>G , CM000668.2:g.89271680A>G	GRCh38
NC_000006.11:g.89981399A>G , CM000668.1:g.89981399A>G	GRCh37
NC_000006.10:g.90038118A>G	NCBI36
NG_033977.1:g.48620T>C
NG_033977.2:g.48620T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002043.5:c.263T>C MANE Select	NP_002034.3:p.Leu88Pro
ENST00000402938.4:c.263T>C MANE Select	ENSP00000386029.4:p.Leu88Pro
NM_002043.3:c.263T>C	NP_002034.3:p.Leu88Pro
NM_002043.4:c.263T>C	NP_002034.3:p.Leu88Pro
ENST00000402938.3:c.263T>C	ENSP00000386029.4:p.Leu88Pro
ENST00000602808.1:n.397T>C
XM_011535713.1:c.131T>C	XP_011534015.1:p.Leu44Pro
XM_011535713.2:c.131T>C	XP_011534015.1:p.Leu44Pro
XM_011535714.1:c.-1310T>C	XP_011534016.1:n.-1310T>C
XM_011535714.3:c.-1310T>C	XP_011534016.1:n.-1310T>C
XM_011535715.1:c.-1337T>C	XP_011534017.1:n.-1337T>C
XM_011535715.3:c.-1337T>C	XP_011534017.1:n.-1337T>C
XM_011535716.1:c.-1828T>C	XP_011534018.1:n.-1828T>C
XM_011535716.3:c.-1828T>C	XP_011534018.1:n.-1828T>C
XM_011535717.1:c.-1373T>C	XP_011534019.1:n.-1373T>C
XM_011535717.3:c.-1373T>C	XP_011534019.1:n.-1373T>C
XM_011535718.1:c.-62T>C	XP_011534020.1:n.-62T>C