Canonical Allele Identifier: CA225089513

Gene: GAB2

Linked Data

• dbSNP Id: rs1031517797
• gnomAD v3: 11-78380063-G-A
• gnomAD v4: 11-78380063-G-A
• MyVariant Identifiers: chr11:g.78091109G>A (hg19) ; chr11:g.78380063G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.78380063G>A , CM000673.2:g.78380063G>A	GRCh38
NC_000011.9:g.78091109G>A , CM000673.1:g.78091109G>A	GRCh37
NC_000011.8:g.77768757G>A	NCBI36
NG_016171.1:g.42760C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361507.5:c.75+37583C>T MANE Select	ENSP00000354952.4:n.75+37583C>T
ENST00000361507.4:c.75+37583C>T	ENSP00000354952.4:n.75+37583C>T
ENST00000526030.1:n.177+37583C>T
ENST00000528886.5:c.-40+38174C>T	ENSP00000433762.1:n.-40+38174C>T
ENST00000530915.1:c.-127-15960C>T	ENSP00000431868.1:n.-127-15960C>T
ENST00000534823.1:n.126+37583C>T
NM_080491.2:c.75+37583C>T	NP_536739.1:n.75+37583C>T
XM_006718753.1:c.-127-15960C>T	XP_006718816.1:n.-127-15960C>T
XM_006718753.2:c.-127-15960C>T	XP_006718816.1:n.-127-15960C>T
NM_080491.3:c.75+37583C>T MANE Select	NP_536739.1:n.75+37583C>T