Canonical Allele Identifier: CA1127195500

Gene: GABBR2

Linked Data

• dbSNP Id: rs1831952455
• gnomAD v3: 9-98380466-A-G
• gnomAD v4: 9-98380466-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98380466A>G , CM000671.2:g.98380466A>G	GRCh38
NC_000009.11:g.101142748A>G , CM000671.1:g.101142748A>G	GRCh37
NC_000009.10:g.100182569A>G	NCBI36
NG_016426.1:g.333732T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000259455.4:c.1662+5174T>C MANE Select	ENSP00000259455.2:n.1662+5174T>C
ENST00000637410.1:n.1440+5174T>C
ENST00000259455.3:c.1662+5174T>C	ENSP00000259455.2:n.1662+5174T>C
ENST00000634314.1:n.167+5174T>C
NM_005458.7:c.1662+5174T>C	NP_005449.5:n.1662+5174T>C
XM_005252316.3:c.888+5174T>C	XP_005252373.1:n.888+5174T>C
XM_005252316.5:c.888+5174T>C	XP_005252373.1:n.888+5174T>C
XM_017015331.2:c.1368+5174T>C	XP_016870820.1:n.1368+5174T>C
XM_017015332.2:c.888+5174T>C	XP_016870821.1:n.888+5174T>C
NM_005458.8:c.1662+5174T>C MANE Select	NP_005449.5:n.1662+5174T>C