Canonical Allele Identifier: CA1127178228

Gene: GABBR2

Linked Data

• dbSNP Id: rs1831211359
• gnomAD v3: 9-98341395-A-G
• gnomAD v4: 9-98341395-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98341395A>G , CM000671.2:g.98341395A>G	GRCh38
NC_000009.11:g.101103677A>G , CM000671.1:g.101103677A>G	GRCh37
NC_000009.10:g.100143498A>G	NCBI36
NG_016426.1:g.372803T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000259455.4:c.1893+21320T>C MANE Select	ENSP00000259455.2:n.1893+21320T>C
ENST00000637410.1:n.1671+21320T>C
ENST00000259455.3:c.1893+21320T>C	ENSP00000259455.2:n.1893+21320T>C
ENST00000634457.1:c.231+21320T>C	ENSP00000489352.1:n.231+21320T>C
ENST00000635462.1:n.388+21320T>C
NM_005458.7:c.1893+21320T>C	NP_005449.5:n.1893+21320T>C
XM_005252316.3:c.1119+21320T>C	XP_005252373.1:n.1119+21320T>C
XM_005252316.5:c.1119+21320T>C	XP_005252373.1:n.1119+21320T>C
XM_017015331.2:c.1599+21320T>C	XP_016870820.1:n.1599+21320T>C
XM_017015332.2:c.1119+21320T>C	XP_016870821.1:n.1119+21320T>C
NM_005458.8:c.1893+21320T>C MANE Select	NP_005449.5:n.1893+21320T>C