Canonical Allele Identifier: CA680545620

Gene: GAB2

Linked Data

• dbSNP Id: rs1222013521
• gnomAD v3: 11-78342107-C-T
• gnomAD v4: 11-78342107-C-T
• MyVariant Identifiers: chr11:g.78053153C>T (hg19) ; chr11:g.78342107C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.78342107C>T , CM000673.2:g.78342107C>T	GRCh38
NC_000011.9:g.78053153C>T , CM000673.1:g.78053153C>T	GRCh37
NC_000011.8:g.77730801C>T	NCBI36
NG_016171.1:g.80716G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000361507.5:c.76-61206G>A MANE Select	ENSP00000354952.4:n.76-61206G>A
ENST00000361507.4:c.76-61206G>A	ENSP00000354952.4:n.76-61206G>A
ENST00000526030.1:n.178-23888G>A
ENST00000528886.5:c.-39-61206G>A	ENSP00000433762.1:n.-39-61206G>A
ENST00000530915.1:c.-40+21909G>A	ENSP00000431868.1:n.-40+21909G>A
ENST00000534823.1:n.127-61206G>A
NM_080491.2:c.76-61206G>A	NP_536739.1:n.76-61206G>A
XM_006718753.1:c.-40+21909G>A	XP_006718816.1:n.-40+21909G>A
XM_006718753.2:c.-40+21909G>A	XP_006718816.1:n.-40+21909G>A
XM_024448782.1:c.21+12627G>A	XP_024304550.1:n.21+12627G>A
NM_080491.3:c.76-61206G>A MANE Select	NP_536739.1:n.76-61206G>A