Canonical Allele Identifier: CA1866959591
Gene: GABBR2 HGNC NCBI

Linked Data

dbSNP Id: rs1831950529
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98380375_98380377del , CM000671.2:g.98380375_98380377del GRCh38
NC_000009.11:g.101142657_101142659del , CM000671.1:g.101142657_101142659del GRCh37
NC_000009.10:g.100182478_100182480del NCBI36
NG_016426.1:g.333823_333825del

Transcript Alleles

HGVS Amino-acid change
ENST00000259455.4:c.1662+5265_1662+5267del MANE Select ENSP00000259455.2:n.1662+5265_1662+5267de...
ENST00000637410.1:n.1440+5265_1440+5267del
ENST00000259455.3:c.1662+5265_1662+5267del ENSP00000259455.2:n.1662+5265_1662+5267de...
ENST00000634314.1:n.167+5265_167+5267del
NM_005458.7:c.1662+5265_1662+5267del NP_005449.5:n.1662+5265_1662+5267del
XM_005252316.3:c.888+5265_888+5267del XP_005252373.1:n.888+5265_888+5267del
XM_005252316.5:c.888+5265_888+5267del XP_005252373.1:n.888+5265_888+5267del
XM_017015331.2:c.1368+5265_1368+5267del XP_016870820.1:n.1368+5265_1368+5267del
XM_017015332.2:c.888+5265_888+5267del XP_016870821.1:n.888+5265_888+5267del
NM_005458.8:c.1662+5265_1662+5267del MANE Select NP_005449.5:n.1662+5265_1662+5267del
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