Canonical Allele Identifier: CA1595984751
Gene: GABRB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.161332949T>A , CM000667.2:g.161332949T>A GRCh38
NC_000005.9:g.160759956T>A , CM000667.1:g.160759956T>A GRCh37
NC_000005.8:g.160692534T>A NCBI36
NG_047050.1:g.220176A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000274547.7:c.832+1803A>T ENSP00000274547.2:n.832+1803A>T
ENST00000393959.6:c.832+1803A>T MANE Select ENSP00000377531.1:n.832+1803A>T
ENST00000674514.1:n.914+1803A>T
ENST00000675081.1:c.*291+1803A>T ENSP00000502207.1:n.*291+1803A>T
ENST00000675303.1:c.832+1803A>T ENSP00000502748.1:n.832+1803A>T
ENST00000675381.1:c.580+1803A>T ENSP00000501968.1:n.580+1803A>T
ENST00000675746.1:c.82+1803A>T ENSP00000502391.1:n.82+1803A>T
ENST00000675773.1:c.832+1803A>T ENSP00000502701.1:n.832+1803A>T
ENST00000274547.6:c.832+1803A>T ENSP00000274547.2:n.832+1803A>T
ENST00000353437.10:c.832+1803A>T ENSP00000274546.6:n.832+1803A>T
ENST00000393959.5:c.832+1803A>T ENSP00000377531.1:n.832+1803A>T
ENST00000517547.5:c.352+1803A>T ENSP00000429750.1:n.352+1803A>T
ENST00000517901.5:c.643+1803A>T ENSP00000430532.1:n.643+1803A>T
ENST00000520240.5:c.832+1803A>T ENSP00000429320.1:n.832+1803A>T
ENST00000612710.1:c.643+1803A>T ENSP00000480066.1:n.643+1803A>T
NM_000813.2:c.832+1803A>T NP_000804.1:n.832+1803A>T
NM_021911.2:c.832+1803A>T NP_068711.1:n.832+1803A>T
XM_011534501.1:c.82+1803A>T XP_011532803.1:n.82+1803A>T
NM_000813.3:c.832+1803A>T NP_000804.1:n.832+1803A>T
NM_001371727.1:c.832+1803A>T MANE Select NP_001358656.1:n.832+1803A>T
NM_021911.3:c.832+1803A>T NP_068711.1:n.832+1803A>T