Canonical Allele Identifier: CA225089497

Gene: GAB2

Linked Data

• dbSNP Id: rs182871083
• gnomAD v2: 11-78090995-T-C
• gnomAD v3: 11-78379949-T-C
• gnomAD v4: 11-78379949-T-C
• MyVariant Identifiers: chr11:g.78090995T>C (hg19) ; chr11:g.78379949T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.78379949T>C , CM000673.2:g.78379949T>C	GRCh38
NC_000011.9:g.78090995T>C , CM000673.1:g.78090995T>C	GRCh37
NC_000011.8:g.77768643T>C	NCBI36
NG_016171.1:g.42874A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000361507.5:c.75+37697A>G MANE Select	ENSP00000354952.4:n.75+37697A>G
ENST00000361507.4:c.75+37697A>G	ENSP00000354952.4:n.75+37697A>G
ENST00000526030.1:n.177+37697A>G
ENST00000528886.5:c.-40+38288A>G	ENSP00000433762.1:n.-40+38288A>G
ENST00000530915.1:c.-127-15846A>G	ENSP00000431868.1:n.-127-15846A>G
ENST00000534823.1:n.126+37697A>G
NM_080491.2:c.75+37697A>G	NP_536739.1:n.75+37697A>G
XM_006718753.1:c.-127-15846A>G	XP_006718816.1:n.-127-15846A>G
XM_006718753.2:c.-127-15846A>G	XP_006718816.1:n.-127-15846A>G
NM_080491.3:c.75+37697A>G MANE Select	NP_536739.1:n.75+37697A>G