Canonical Allele Identifier: CA325554842
Gene: NCAPH2 HGNC NCBI

Linked Data

dbSNP Id: rs539089690
gnomAD v2: 22-50961936-G-A
gnomAD v3: 22-50523507-G-A
gnomAD v4: 22-50523507-G-A
MyVariant Identifiers: chr22:g.50961936G>A (hg19) chr22:g.50523507G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50523507G>A , CM000684.2:g.50523507G>A GRCh38
NC_000022.10:g.50961936G>A , CM000684.1:g.50961936G>A GRCh37
NC_000022.9:g.49308802G>A NCBI36
NG_016235.1:g.7933C>T
NG_021419.1:g.20292G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000420993.7:c.*132G>A MANE Select ENSP00000410088.2:n.*132G>A
NM_001185011.1:c.*132G>A NP_001171940.1:n.*132G>A
NM_152299.3:c.*132G>A NP_689512.2:n.*132G>A
XR_001755232.1:n.2160G>A
NM_152299.4:c.*132G>A MANE Select NP_689512.2:n.*132G>A
NM_001185011.2:c.*132G>A NP_001171940.1:n.*132G>A
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