Canonical Allele Identifier: CA400783941
Gene: NACA2 HGNC NCBI

Linked Data

dbSNP Id: rs1308314589
gnomAD v2: 17-59668072-G-T
MyVariant Identifiers: chr17:g.59668072G>T (hg19) chr17:g.61590711G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61590711G>T , CM000679.2:g.61590711G>T GRCh38
NC_000017.10:g.59668072G>T , CM000679.1:g.59668072G>T GRCh37
NC_000017.9:g.57022854G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000521764.3:c.470C>A MANE Select ENSP00000427802.1:p.Thr157Lys
ENST00000521764.2:c.470C>A ENSP00000427802.1:p.Thr157Lys
NM_199290.3:c.470C>A NP_954984.1:p.Thr157Lys
NM_199290.4:c.470C>A MANE Select NP_954984.1:p.Thr157Lys
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