Canonical Allele Identifier: CA1866959637
Gene: GABBR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98380423_98380424delinsCT , CM000671.2:g.98380423_98380424delinsCT GRCh38
NC_000009.11:g.101142705_101142706delinsCT , CM000671.1:g.101142705_101142706delinsCT GRCh37
NC_000009.10:g.100182526_100182527delinsCT NCBI36
NG_016426.1:g.333774_333775delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.1662+5216_1662+5217delinsAG MANE Select ENSP00000259455.2:n.1662+5216_1662+5217delinsAG
ENST00000637410.1:n.1440+5216_1440+5217delinsAG
ENST00000259455.3:c.1662+5216_1662+5217delinsAG ENSP00000259455.2:n.1662+5216_1662+5217delinsAG
ENST00000634314.1:n.167+5216_167+5217delinsAG
NM_005458.7:c.1662+5216_1662+5217delinsAG NP_005449.5:n.1662+5216_1662+5217delinsAG
XM_005252316.3:c.888+5216_888+5217delinsAG XP_005252373.1:n.888+5216_888+5217delinsAG
XM_005252316.5:c.888+5216_888+5217delinsAG XP_005252373.1:n.888+5216_888+5217delinsAG
XM_017015331.2:c.1368+5216_1368+5217delinsAG XP_016870820.1:n.1368+5216_1368+5217delinsAG
XM_017015332.2:c.888+5216_888+5217delinsAG XP_016870821.1:n.888+5216_888+5217delinsAG
NM_005458.8:c.1662+5216_1662+5217delinsAG MANE Select NP_005449.5:n.1662+5216_1662+5217delinsAG