Canonical Allele Identifier: CA13389352
Gene: GAB2 HGNC NCBI
ZNF75CP HGNC NCBI
dbSNP:
10899489
gnomAD v2:
11:78095373 C / A
gnomAD v3:
11:78384327 C / A
gnomAD v4:
chr11-78384327-C-A
Joint Max Group AF 0.38950652 (EAS)
Genomes Max Group AF 0.38950652 (EAS)
MyVariant.info:
GRCh38 chr11:g.78384327C>A
GRCh37 chr11:g.78095373C>A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.78384327C>A , CM000673.2:g.78384327C>A GRCh38
NC_000011.9:g.78095373C>A , CM000673.1:g.78095373C>A GRCh37
NC_000011.8:g.77773021C>A NCBI36
NG_016171.1:g.38496G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361507.5:c.75+33319G>T (GAB2) MANE Select ENSP00000354952.4:n.75+33319G>T
ENST00000671814.1:n.120C>A (ZNF75CP)
ENST00000672296.1:n.269C>A (ZNF75CP)
ENST00000361507.4:c.75+33319G>T (GAB2) ENSP00000354952.4:n.75+33319G>T
ENST00000526030.1:n.177+33319G>T (GAB2)
ENST00000528886.5:c.-40+33910G>T (GAB2) ENSP00000433762.1:n.-40+33910G>T
ENST00000530915.1:c.-127-20224G>T (GAB2) ENSP00000431868.1:n.-127-20224G>T
ENST00000534823.1:n.126+33319G>T (GAB2)
NM_080491.2:c.75+33319G>T (GAB2) NP_536739.1:n.75+33319G>T
XM_006718753.1:c.-127-20224G>T (GAB2) XP_006718816.1:n.-127-20224G>T
XM_006718753.2:c.-127-20224G>T (GAB2) XP_006718816.1:n.-127-20224G>T
NM_080491.3:c.75+33319G>T (GAB2) MANE Select NP_536739.1:n.75+33319G>T
Search 100 bp 5'
Search 100 bp 3'