Canonical Allele Identifier: CA640357296
Gene: NCAPH2 HGNC NCBI

Linked Data

dbSNP Id: rs190241660
gnomAD v2: 22-50961968-C-G
gnomAD v3: 22-50523539-C-G
gnomAD v4: 22-50523539-C-G
MyVariant Identifiers: chr22:g.50961968C>G (hg19) chr22:g.50523539C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50523539C>G , CM000684.2:g.50523539C>G GRCh38
NC_000022.10:g.50961968C>G , CM000684.1:g.50961968C>G GRCh37
NC_000022.9:g.49308834C>G NCBI36
NG_016235.1:g.7901G>C
NG_021419.1:g.20324C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000420993.7:c.*164C>G MANE Select ENSP00000410088.2:n.*164C>G
NM_001185011.1:c.*164C>G NP_001171940.1:n.*164C>G
NM_152299.3:c.*164C>G NP_689512.2:n.*164C>G
XR_001755232.1:n.2192C>G
NM_152299.4:c.*164C>G MANE Select NP_689512.2:n.*164C>G
NM_001185011.2:c.*164C>G NP_001171940.1:n.*164C>G
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