Canonical Allele Identifier: CA2538091212
Gene: GAB2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.78380173A>G , CM000673.2:g.78380173A>G GRCh38
NC_000011.9:g.78091219A>G , CM000673.1:g.78091219A>G GRCh37
NC_000011.8:g.77768867A>G NCBI36
NG_016171.1:g.42650T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361507.5:c.75+37473T>C MANE Select ENSP00000354952.4:n.75+37473T>C
ENST00000361507.4:c.75+37473T>C ENSP00000354952.4:n.75+37473T>C
ENST00000526030.1:n.177+37473T>C
ENST00000528886.5:c.-40+38064T>C ENSP00000433762.1:n.-40+38064T>C
ENST00000530915.1:c.-127-16070T>C ENSP00000431868.1:n.-127-16070T>C
ENST00000534823.1:n.126+37473T>C
NM_080491.2:c.75+37473T>C NP_536739.1:n.75+37473T>C
XM_006718753.1:c.-127-16070T>C XP_006718816.1:n.-127-16070T>C
XM_006718753.2:c.-127-16070T>C XP_006718816.1:n.-127-16070T>C
NM_080491.3:c.75+37473T>C MANE Select NP_536739.1:n.75+37473T>C
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