Canonical Allele Identifier: CA8690230
Gene: NACA2 HGNC NCBI

Linked Data

dbSNP Id: rs751844331
ExAC: 17:59668220 T / G
gnomAD v2: 17-59668220-T-G
gnomAD v4: 17-61590859-T-G
MyVariant Identifiers: chr17:g.59668220T>G (hg19) chr17:g.61590859T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61590859T>G , CM000679.2:g.61590859T>G GRCh38
NC_000017.10:g.59668220T>G , CM000679.1:g.59668220T>G GRCh37
NC_000017.9:g.57023002T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000521764.3:c.322A>C MANE Select ENSP00000427802.1:p.Lys108Gln
ENST00000521764.2:c.322A>C ENSP00000427802.1:p.Lys108Gln
NM_199290.3:c.322A>C NP_954984.1:p.Lys108Gln
NM_199290.4:c.322A>C MANE Select NP_954984.1:p.Lys108Gln
Search 100 bp 5'
Search 100 bp 3'