Canonical Allele Identifier: CA225089504

Gene: GAB2

Linked Data

• dbSNP Id: rs992699246
• MyVariant Identifiers: chr11:g.78091040A>G (hg19) ; chr11:g.78379994A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.78379994A>G , CM000673.2:g.78379994A>G	GRCh38
NC_000011.9:g.78091040A>G , CM000673.1:g.78091040A>G	GRCh37
NC_000011.8:g.77768688A>G	NCBI36
NG_016171.1:g.42829T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361507.5:c.75+37652T>C MANE Select	ENSP00000354952.4:n.75+37652T>C
ENST00000361507.4:c.75+37652T>C	ENSP00000354952.4:n.75+37652T>C
ENST00000526030.1:n.177+37652T>C
ENST00000528886.5:c.-40+38243T>C	ENSP00000433762.1:n.-40+38243T>C
ENST00000530915.1:c.-127-15891T>C	ENSP00000431868.1:n.-127-15891T>C
ENST00000534823.1:n.126+37652T>C
NM_080491.2:c.75+37652T>C	NP_536739.1:n.75+37652T>C
XM_006718753.1:c.-127-15891T>C	XP_006718816.1:n.-127-15891T>C
XM_006718753.2:c.-127-15891T>C	XP_006718816.1:n.-127-15891T>C
NM_080491.3:c.75+37652T>C MANE Select	NP_536739.1:n.75+37652T>C