Canonical Allele Identifier: CA466527032
Gene: GABBR2 HGNC NCBI

Linked Data

gnomAD v4: 9-98541999-T-C
MyVariant Identifiers: chr9:g.101304281T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98541999T>C , CM000671.2:g.98541999T>C GRCh38
NC_000009.11:g.101304281T>C , CM000671.1:g.101304281T>C GRCh37
NC_000009.10:g.100344102T>C NCBI36
NG_016426.1:g.172199A>G

Transcript Alleles

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