Canonical Allele Identifier: CA325554890
Gene: NCAPH2 HGNC NCBI

Linked Data

dbSNP Id: rs201538137
gnomAD v2: 22-50961980-T-TCA
gnomAD v3: 22-50523551-T-TCA
gnomAD v4: 22-50523551-T-TCA
MyVariant Identifiers: chr22:g.50961984_50961985insCA (hg19) chr22:g.50961980_50961981insCA (hg19) chr22:g.50523555_50523556insCA (hg38) chr22:g.50523551_50523552insCA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50523564_50523565dup , CM000684.2:g.50523564_50523565dup GRCh38
NC_000022.10:g.50961993_50961994dup , CM000684.1:g.50961993_50961994dup GRCh37
NC_000022.9:g.49308859_49308860dup NCBI36
NG_016235.1:g.7887_7888dup
NG_021419.1:g.20349_20350dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000420993.7:c.*189_*190dup MANE Select ENSP00000410088.2:n.*189_*190dup
NM_001185011.1:c.*189_*190dup NP_001171940.1:n.*189_*190dup
NM_152299.3:c.*189_*190dup NP_689512.2:n.*189_*190dup
XR_001755232.1:n.2217_2218dup
NM_152299.4:c.*189_*190dup MANE Select NP_689512.2:n.*189_*190dup
NM_001185011.2:c.*189_*190dup NP_001171940.1:n.*189_*190dup
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