Canonical Allele Identifier: CA640357299
Gene: NCAPH2 HGNC NCBI

Linked Data

dbSNP Id: rs1230461229
gnomAD v2: 22-50961989-C-G
gnomAD v4: 22-50523560-C-G
MyVariant Identifiers: chr22:g.50961989C>G (hg19) chr22:g.50523560C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50523560C>G , CM000684.2:g.50523560C>G GRCh38
NC_000022.10:g.50961989C>G , CM000684.1:g.50961989C>G GRCh37
NC_000022.9:g.49308855C>G NCBI36
NG_016235.1:g.7880G>C
NG_021419.1:g.20345C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000420993.7:c.*185C>G MANE Select ENSP00000410088.2:n.*185C>G
NM_001185011.1:c.*185C>G NP_001171940.1:n.*185C>G
NM_152299.3:c.*185C>G NP_689512.2:n.*185C>G
XR_001755232.1:n.2213C>G
NM_152299.4:c.*185C>G MANE Select NP_689512.2:n.*185C>G
NM_001185011.2:c.*185C>G NP_001171940.1:n.*185C>G
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