Canonical Allele Identifier: CA2577766314
Gene: NCAPH2 HGNC NCBI

Linked Data

gnomAD v4: 22-50523564-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50523564C>G , CM000684.2:g.50523564C>G GRCh38
NC_000022.10:g.50961993C>G , CM000684.1:g.50961993C>G GRCh37
NC_000022.9:g.49308859C>G NCBI36
NG_016235.1:g.7876G>C
NG_021419.1:g.20349C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000420993.7:c.*189C>G MANE Select ENSP00000410088.2:n.*189C>G
NM_001185011.1:c.*189C>G NP_001171940.1:n.*189C>G
NM_152299.3:c.*189C>G NP_689512.2:n.*189C>G
XR_001755232.1:n.2217C>G
NM_152299.4:c.*189C>G MANE Select NP_689512.2:n.*189C>G
NM_001185011.2:c.*189C>G NP_001171940.1:n.*189C>G
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