Canonical Allele Identifier: CA198059995
Gene: PALM2AKAP2 HGNC NCBI
COSMIC:
COSN14869262 (not active)
MyVariant.info:
GRCh38 chr9:g.109764009C>G
GRCh37 chr9:g.112526289C>G
gnomAD v2:
9:112526289 C / G
gnomAD v3:
9:109764009 C / G
gnomAD v4:
chr9-109764009-C-G
Joint Max Group AF 0.24575901 (EAS)
Genomes Max Group AF 0.24575901 (EAS)
dbSNP:
1327796
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.109764009C>G , CM000671.2:g.109764009C>G GRCh38
NC_000009.11:g.112526289C>G , CM000671.1:g.112526289C>G GRCh37
NC_000009.10:g.111566110C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000674068.1:c.-1-16479C>G ENSP00000501308.1:n.-1-16479C>G
ENST00000374531.6:c.6-16479C>G ENSP00000363656.2:n.6-16479C>G
NM_001037293.2:c.6-16479C>G NP_001032370.1:n.6-16479C>G
XM_017015385.1:c.245+1404G>C XP_016870874.1:n.245+1404G>C
NM_001037293.3:c.6-16479C>G NP_001032370.1:n.6-16479C>G
NR_171891.1:n.445+1404G>C
Search 100 bp 5'
Search 100 bp 3'