Canonical Allele Identifier: CA939875161
Gene: GAB2 HGNC NCBI

Linked Data

dbSNP Id: rs1856678276
gnomAD v3: 11-78380059-C-T
gnomAD v4: 11-78380059-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.78380059C>T , CM000673.2:g.78380059C>T GRCh38
NC_000011.9:g.78091105C>T , CM000673.1:g.78091105C>T GRCh37
NC_000011.8:g.77768753C>T NCBI36
NG_016171.1:g.42764G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000361507.5:c.75+37587G>A MANE Select ENSP00000354952.4:n.75+37587G>A
ENST00000361507.4:c.75+37587G>A ENSP00000354952.4:n.75+37587G>A
ENST00000526030.1:n.177+37587G>A
ENST00000528886.5:c.-40+38178G>A ENSP00000433762.1:n.-40+38178G>A
ENST00000530915.1:c.-127-15956G>A ENSP00000431868.1:n.-127-15956G>A
ENST00000534823.1:n.126+37587G>A
NM_080491.2:c.75+37587G>A NP_536739.1:n.75+37587G>A
XM_006718753.1:c.-127-15956G>A XP_006718816.1:n.-127-15956G>A
XM_006718753.2:c.-127-15956G>A XP_006718816.1:n.-127-15956G>A
NM_080491.3:c.75+37587G>A MANE Select NP_536739.1:n.75+37587G>A
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