Canonical Allele Identifier: CA466527048

Gene: GABBR2

Linked Data

• MyVariant Identifiers: chr9:g.101304296T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98542014T>G , CM000671.2:g.98542014T>G	GRCh38
NC_000009.11:g.101304296T>G , CM000671.1:g.101304296T>G	GRCh37
NC_000009.10:g.100344117T>G	NCBI36
NG_016426.1:g.172184A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.489A>C MANE Select	ENSP00000259455.2:p.Leu163=
ENST00000637410.1:n.267A>C
ENST00000637717.1:c.105A>C	ENSP00000490789.1:p.Leu35=
ENST00000638001.1:n.99A>C
ENST00000259455.3:c.489A>C	ENSP00000259455.2:p.Leu163=
ENST00000477471.1:n.276A>C
ENST00000634227.1:n.263A>C
NM_005458.7:c.489A>C	NP_005449.5:p.Leu163=
XM_017015331.2:c.195A>C	XP_016870820.1:p.Leu65=
NM_005458.8:c.489A>C MANE Select	NP_005449.5:p.Leu163=