Canonical Allele Identifier: CA4170232
Gene: ANKMY2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.16615892C>A
GRCh37 chr7:g.16655517C>A
Revel Score:
ENST00000306999 (MANE Select) 0.553
gnomAD v2:
7:16655517 C / A
gnomAD v3:
7:16615892 C / A
gnomAD v4:
chr7-16615892-C-A
Joint Max Group AF 0.0000438 (AFR)
Genomes Max Group AF 0.00006287 (AFR)
ClinVar RCV:
RCV004111843
ClinVar Variation:
2252334
dbSNP:
368949494
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.16615892C>A , CM000669.2:g.16615892C>A GRCh38
NC_000007.13:g.16655517C>A , CM000669.1:g.16655517C>A GRCh37
NC_000007.12:g.16622042C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000306999.7:c.383G>T MANE Select ENSP00000303570.2:p.Cys128Phe
ENST00000306999.6:c.383G>T ENSP00000303570.2:p.Cys128Phe
ENST00000447802.3:c.383G>T ENSP00000392259.1:p.Cys128Phe
ENST00000628652.1:c.383G>T ENSP00000485738.1:p.Cys128Phe
NM_020319.2:c.383G>T NP_064715.1:p.Cys128Phe
XM_011515458.1:c.245G>T XP_011513760.1:p.Cys82Phe
XR_927060.1:n.222-134C>A
XR_927061.1:n.222-134C>A
XR_927062.1:n.181-134C>A
XR_927063.1:n.81-134C>A
XR_927064.1:n.222-134C>A
XM_011515458.2:c.245G>T XP_011513760.1:p.Cys82Phe
XR_001745103.1:n.222-134C>A
XR_001745104.1:n.81-134C>A
NM_020319.3:c.383G>T MANE Select NP_064715.1:p.Cys128Phe
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