Canonical Allele Identifier: CA1866982127
Community Standard Title: NM_005458.8(GABBR2):c.732+5469A=
Gene: GABBR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98490944T= , CM000671.2:g.98490944T= GRCh38
NC_000009.11:g.101253226T= , CM000671.1:g.101253226T= GRCh37
NC_000009.10:g.100293047T= NCBI36
NG_016426.1:g.223254A=

Transcript Alleles

HGVS Amino-acid Change
NM_005458.8:c.732+5469A= MANE Select NP_005449.5:n.732+5469A=
ENST00000259455.4:c.732+5469A= MANE Select ENSP00000259455.2:n.732+5469A=
NM_005458.7:c.732+5469A= NP_005449.5:n.732+5469A=
ENST00000259455.3:c.732+5469A= ENSP00000259455.2:n.732+5469A=
ENST00000477471.1:n.519+5469A=
ENST00000634227.1:n.506+5469A=
ENST00000634919.1:n.510+5022A=
ENST00000637410.1:n.510+5469A=
XM_005252316.3:c.-43+5469A= XP_005252373.1:n.-43+5469A=
XM_005252316.5:c.-43+5469A= XP_005252373.1:n.-43+5469A=
XM_017015331.2:c.438+5469A= XP_016870820.1:n.438+5469A=