Canonical Allele Identifier: CA466526961
Gene: GABBR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.101304191C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98541909C>G , CM000671.2:g.98541909C>G GRCh38
NC_000009.11:g.101304191C>G , CM000671.1:g.101304191C>G GRCh37
NC_000009.10:g.100344012C>G NCBI36
NG_016426.1:g.172289G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.594G>C MANE Select ENSP00000259455.2:p.Val198=
ENST00000637410.1:n.372G>C
ENST00000637717.1:c.210G>C ENSP00000490789.1:p.Val70=
ENST00000259455.3:c.594G>C ENSP00000259455.2:p.Val198=
ENST00000477471.1:n.381G>C
ENST00000634227.1:n.368G>C
NM_005458.7:c.594G>C NP_005449.5:p.Val198=
XM_017015331.2:c.300G>C XP_016870820.1:p.Val100=
NM_005458.8:c.594G>C MANE Select NP_005449.5:p.Val198=