Allele Registry

Canonical Allele Identifier: CA15417908

Gene: IPO11 HGNC NCBI
KIF2A HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr5:g.62468025A>G

GRCh37 chr5:g.61763852A>G

Linked Data - Sequence & Population

gnomAD v2:

5:61763852 A / G

gnomAD v3:

5:62468025 A / G

gnomAD v4:

chr5-62468025-A-G

Joint Max Group AF 0.66482367 (SAS)

Genomes Max Group AF 0.66482367 (SAS)

Linked Data - NCBI & NCI

dbSNP:

40110

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.62468025A>G , CM000667.2:g.62468025A>G	GRCh38
NC_000005.9:g.61763852A>G , CM000667.1:g.61763852A>G	GRCh37
NC_000005.8:g.61799609A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325324.11:c.649+762A>G (IPO11) MANE Select	ENSP00000316651.6:n.649+762A>G
ENST00000325324.10:c.649+762A>G (IPO11)	ENSP00000316651.6:n.649+762A>G
ENST00000409296.7:c.769+762A>G (IPO11)	ENSP00000386992.3:n.769+762A>G
ENST00000424533.5:c.649+762A>G (IPO11)	ENSP00000395685.1:n.649+762A>G
ENST00000507640.1:n.60+762A>G (IPO11)
ENST00000509663.2:n.332-47363A>G (KIF2A)
NM_001134779.1:c.769+762A>G (IPO11)	NP_001128251.1:n.769+762A>G
NM_016338.4:c.649+762A>G (IPO11)	NP_057422.3:n.649+762A>G
NM_001134779.2:c.769+762A>G (IPO11)	NP_001128251.1:n.769+762A>G
NM_016338.5:c.649+762A>G (IPO11) MANE Select	NP_057422.3:n.649+762A>G

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