Canonical Allele Identifier: CA680553982

Gene: GAB2

Linked Data

• dbSNP Id: rs1391031370
• gnomAD v3: 11-78380145-T-C
• gnomAD v4: 11-78380145-T-C
• MyVariant Identifiers: chr11:g.78091191T>C (hg19) ; chr11:g.78380145T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.78380145T>C , CM000673.2:g.78380145T>C	GRCh38
NC_000011.9:g.78091191T>C , CM000673.1:g.78091191T>C	GRCh37
NC_000011.8:g.77768839T>C	NCBI36
NG_016171.1:g.42678A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000361507.5:c.75+37501A>G MANE Select	ENSP00000354952.4:n.75+37501A>G
ENST00000361507.4:c.75+37501A>G	ENSP00000354952.4:n.75+37501A>G
ENST00000526030.1:n.177+37501A>G
ENST00000528886.5:c.-40+38092A>G	ENSP00000433762.1:n.-40+38092A>G
ENST00000530915.1:c.-127-16042A>G	ENSP00000431868.1:n.-127-16042A>G
ENST00000534823.1:n.126+37501A>G
NM_080491.2:c.75+37501A>G	NP_536739.1:n.75+37501A>G
XM_006718753.1:c.-127-16042A>G	XP_006718816.1:n.-127-16042A>G
XM_006718753.2:c.-127-16042A>G	XP_006718816.1:n.-127-16042A>G
NM_080491.3:c.75+37501A>G MANE Select	NP_536739.1:n.75+37501A>G