Canonical Allele Identifier: CA939875178

Gene: GAB2

Linked Data

• dbSNP Id: rs1856679319
• gnomAD v3: 11-78380134-T-G
• gnomAD v4: 11-78380134-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.78380134T>G , CM000673.2:g.78380134T>G	GRCh38
NC_000011.9:g.78091180T>G , CM000673.1:g.78091180T>G	GRCh37
NC_000011.8:g.77768828T>G	NCBI36
NG_016171.1:g.42689A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361507.5:c.75+37512A>C MANE Select	ENSP00000354952.4:n.75+37512A>C
ENST00000361507.4:c.75+37512A>C	ENSP00000354952.4:n.75+37512A>C
ENST00000526030.1:n.177+37512A>C
ENST00000528886.5:c.-40+38103A>C	ENSP00000433762.1:n.-40+38103A>C
ENST00000530915.1:c.-127-16031A>C	ENSP00000431868.1:n.-127-16031A>C
ENST00000534823.1:n.126+37512A>C
NM_080491.2:c.75+37512A>C	NP_536739.1:n.75+37512A>C
XM_006718753.1:c.-127-16031A>C	XP_006718816.1:n.-127-16031A>C
XM_006718753.2:c.-127-16031A>C	XP_006718816.1:n.-127-16031A>C
NM_080491.3:c.75+37512A>C MANE Select	NP_536739.1:n.75+37512A>C