Canonical Allele Identifier: CA5152960
Gene: GABBR2 HGNC NCBI

Linked Data

dbSNP Id: rs755248152
ExAC: 9:101304301 C / A
gnomAD v2: 9-101304301-C-A
gnomAD v4: 9-98542019-C-A
MyVariant Identifiers: chr9:g.101304301C>A (hg19) chr9:g.98542019C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98542019C>A , CM000671.2:g.98542019C>A GRCh38
NC_000009.11:g.101304301C>A , CM000671.1:g.101304301C>A GRCh37
NC_000009.10:g.100344122C>A NCBI36
NG_016426.1:g.172179G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.484G>T MANE Select ENSP00000259455.2:p.Val162Phe
ENST00000637410.1:n.262G>T
ENST00000637717.1:c.100G>T ENSP00000490789.1:p.Val34Phe
ENST00000638001.1:n.94G>T
ENST00000259455.3:c.484G>T ENSP00000259455.2:p.Val162Phe
ENST00000477471.1:n.271G>T
ENST00000634227.1:n.258G>T
NM_005458.7:c.484G>T NP_005449.5:p.Val162Phe
XM_017015331.2:c.190G>T XP_016870820.1:p.Val64Phe
NM_005458.8:c.484G>T MANE Select NP_005449.5:p.Val162Phe
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