Canonical Allele Identifier: CA1866951599
Community Standard Title: NM_005458.8(GABBR2):c.1699G= (p.Ala567=)
Gene: GABBR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98371535C= , CM000671.2:g.98371535C= GRCh38
NC_000009.11:g.101133817C= , CM000671.1:g.101133817C= GRCh37
NC_000009.10:g.100173638C= NCBI36
NG_016426.1:g.342663G=

Transcript Alleles

HGVS Amino-acid Change
NM_005458.8:c.1699G= MANE Select NP_005449.5:p.Ala567=
ENST00000259455.4:c.1699G= MANE Select ENSP00000259455.2:p.Ala567=
NM_005458.7:c.1699G= NP_005449.5:p.Ala567=
ENST00000259455.3:c.1699G= ENSP00000259455.2:p.Ala567=
ENST00000634314.1:n.204G=
ENST00000634457.1:c.37G= ENSP00000489352.1:p.Ala13=
ENST00000635462.1:n.194G=
ENST00000637410.1:n.1477G=
XM_005252316.3:c.925G= XP_005252373.1:p.Ala309=
XM_005252316.5:c.925G= XP_005252373.1:p.Ala309=
XM_017015331.2:c.1405G= XP_016870820.1:p.Ala469=
XM_017015332.2:c.925G= XP_016870821.1:p.Ala309=