Canonical Allele Identifier: CA1866994189
Gene: GABBR2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98541998_98541999delinsAT , CM000671.2:g.98541998_98541999delinsAT GRCh38
NC_000009.11:g.101304280_101304281delinsAT , CM000671.1:g.101304280_101304281delinsAT GRCh37
NC_000009.10:g.100344101_100344102delinsAT NCBI36
NG_016426.1:g.172199_172200delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.504_505delinsAT MANE Select ENSP00000259455.2:p.Lys168=
ENST00000637410.1:n.282_283delinsAT
ENST00000637717.1:c.120_121delinsAT ENSP00000490789.1:p.Lys40=
ENST00000259455.3:c.504_505delinsAT ENSP00000259455.2:p.Lys168=
ENST00000477471.1:n.291_292delinsAT
ENST00000634227.1:n.278_279delinsAT
NM_005458.7:c.504_505delinsAT NP_005449.5:p.Lys168=
XM_017015331.2:c.210_211delinsAT XP_016870820.1:p.Lys70=
NM_005458.8:c.504_505delinsAT MANE Select NP_005449.5:p.Lys168=
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