Canonical Allele Identifier: CA400784015
Gene: NACA2 HGNC NCBI

Linked Data

dbSNP Id: rs1176790278
gnomAD v2: 17-59668109-C-A
gnomAD v3: 17-61590748-C-A
gnomAD v4: 17-61590748-C-A
MyVariant Identifiers: chr17:g.59668109C>A (hg19) chr17:g.61590748C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61590748C>A , CM000679.2:g.61590748C>A GRCh38
NC_000017.10:g.59668109C>A , CM000679.1:g.59668109C>A GRCh37
NC_000017.9:g.57022891C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000521764.3:c.433G>T MANE Select ENSP00000427802.1:p.Val145Phe
ENST00000521764.2:c.433G>T ENSP00000427802.1:p.Val145Phe
NM_199290.3:c.433G>T NP_954984.1:p.Val145Phe
NM_199290.4:c.433G>T MANE Select NP_954984.1:p.Val145Phe
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Search 100 bp 3'