Canonical Allele Identifier: CA374351211

Gene: GABBR2

Linked Data

• MyVariant Identifiers: chr9:g.101304325G>T (hg19) ; chr9:g.98542043G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98542043G>T , CM000671.2:g.98542043G>T	GRCh38
NC_000009.11:g.101304325G>T , CM000671.1:g.101304325G>T	GRCh37
NC_000009.10:g.100344146G>T	NCBI36
NG_016426.1:g.172155C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.460C>A MANE Select	ENSP00000259455.2:p.Leu154Ile
ENST00000637410.1:n.238C>A
ENST00000637717.1:c.76C>A	ENSP00000490789.1:p.Leu26Ile
ENST00000638001.1:n.70C>A
ENST00000259455.3:c.460C>A	ENSP00000259455.2:p.Leu154Ile
ENST00000477471.1:n.247C>A
ENST00000634227.1:n.234C>A
NM_005458.7:c.460C>A	NP_005449.5:p.Leu154Ile
XM_017015331.2:c.166C>A	XP_016870820.1:p.Leu56Ile
NM_005458.8:c.460C>A MANE Select	NP_005449.5:p.Leu154Ile