Canonical Allele Identifier: CA374350984

Gene: GABBR2

Linked Data

• MyVariant Identifiers: chr9:g.101304222T>A (hg19) ; chr9:g.98541940T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98541940T>A , CM000671.2:g.98541940T>A	GRCh38
NC_000009.11:g.101304222T>A , CM000671.1:g.101304222T>A	GRCh37
NC_000009.10:g.100344043T>A	NCBI36
NG_016426.1:g.172258A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.563A>T MANE Select	ENSP00000259455.2:p.Lys188Met
ENST00000637410.1:n.341A>T
ENST00000637717.1:c.179A>T	ENSP00000490789.1:p.Lys60Met
ENST00000259455.3:c.563A>T	ENSP00000259455.2:p.Lys188Met
ENST00000477471.1:n.350A>T
ENST00000634227.1:n.337A>T
NM_005458.7:c.563A>T	NP_005449.5:p.Lys188Met
XM_017015331.2:c.269A>T	XP_016870820.1:p.Lys90Met
NM_005458.8:c.563A>T MANE Select	NP_005449.5:p.Lys188Met