Canonical Allele Identifier: CA374351089
Gene: GABBR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.101304270A>C (hg19) chr9:g.98541988A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98541988A>C , CM000671.2:g.98541988A>C GRCh38
NC_000009.11:g.101304270A>C , CM000671.1:g.101304270A>C GRCh37
NC_000009.10:g.100344091A>C NCBI36
NG_016426.1:g.172210T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.515T>G MANE Select ENSP00000259455.2:p.Phe172Cys
ENST00000637410.1:n.293T>G
ENST00000637717.1:c.131T>G ENSP00000490789.1:p.Phe44Cys
ENST00000259455.3:c.515T>G ENSP00000259455.2:p.Phe172Cys
ENST00000477471.1:n.302T>G
ENST00000634227.1:n.289T>G
NM_005458.7:c.515T>G NP_005449.5:p.Phe172Cys
XM_017015331.2:c.221T>G XP_016870820.1:p.Phe74Cys
NM_005458.8:c.515T>G MANE Select NP_005449.5:p.Phe172Cys
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