Canonical Allele Identifier: CA589347236

Gene: GABBR2

Linked Data

• dbSNP Id: rs1328850426
• gnomAD v2: 9-101142780-G-C
• MyVariant Identifiers: chr9:g.101142780G>C (hg19) ; chr9:g.98380498G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98380498G>C , CM000671.2:g.98380498G>C	GRCh38
NC_000009.11:g.101142780G>C , CM000671.1:g.101142780G>C	GRCh37
NC_000009.10:g.100182601G>C	NCBI36
NG_016426.1:g.333700C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000259455.4:c.1662+5142C>G MANE Select	ENSP00000259455.2:n.1662+5142C>G
ENST00000637410.1:n.1440+5142C>G
ENST00000259455.3:c.1662+5142C>G	ENSP00000259455.2:n.1662+5142C>G
ENST00000634314.1:n.167+5142C>G
NM_005458.7:c.1662+5142C>G	NP_005449.5:n.1662+5142C>G
XM_005252316.3:c.888+5142C>G	XP_005252373.1:n.888+5142C>G
XM_005252316.5:c.888+5142C>G	XP_005252373.1:n.888+5142C>G
XM_017015331.2:c.1368+5142C>G	XP_016870820.1:n.1368+5142C>G
XM_017015332.2:c.888+5142C>G	XP_016870821.1:n.888+5142C>G
NM_005458.8:c.1662+5142C>G MANE Select	NP_005449.5:n.1662+5142C>G