Canonical Allele Identifier: CA466526952
Gene: GABBR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.101304182C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98541900C>T , CM000671.2:g.98541900C>T GRCh38
NC_000009.11:g.101304182C>T , CM000671.1:g.101304182C>T GRCh37
NC_000009.10:g.100344003C>T NCBI36
NG_016426.1:g.172298G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.603G>A MANE Select ENSP00000259455.2:p.Leu201=
ENST00000637410.1:n.381G>A
ENST00000637717.1:c.219G>A ENSP00000490789.1:p.Leu73=
ENST00000259455.3:c.603G>A ENSP00000259455.2:p.Leu201=
ENST00000477471.1:n.390G>A
ENST00000634227.1:n.377G>A
NM_005458.7:c.603G>A NP_005449.5:p.Leu201=
XM_017015331.2:c.309G>A XP_016870820.1:p.Leu103=
NM_005458.8:c.603G>A MANE Select NP_005449.5:p.Leu201=