Canonical Allele Identifier: CA8690155
Gene: NACA2 HGNC NCBI

Linked Data

dbSNP Id: rs758062411
ExAC: 17:59667895 T / A
gnomAD v2: 17-59667895-T-A
gnomAD v3: 17-61590534-T-A
gnomAD v4: 17-61590534-T-A
MyVariant Identifiers: chr17:g.59667895T>A (hg19) chr17:g.61590534T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61590534T>A , CM000679.2:g.61590534T>A GRCh38
NC_000017.10:g.59667895T>A , CM000679.1:g.59667895T>A GRCh37
NC_000017.9:g.57022677T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000521764.3:c.647A>T MANE Select ENSP00000427802.1:p.Ter216Leu
ENST00000521764.2:c.647A>T ENSP00000427802.1:p.Ter216Leu
NM_199290.3:c.647A>T NP_954984.1:p.Ter216Leu
NM_199290.4:c.647A>T MANE Select NP_954984.1:p.Ter216Leu
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