Canonical Allele Identifier: CA8690243
Gene: NACA2 HGNC NCBI

Linked Data

dbSNP Id: rs570235223
ExAC: 17:59668308 C / T
gnomAD v2: 17-59668308-C-T
gnomAD v4: 17-61590947-C-T
MyVariant Identifiers: chr17:g.59668308C>T (hg19) chr17:g.61590947C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61590947C>T , CM000679.2:g.61590947C>T GRCh38
NC_000017.10:g.59668308C>T , CM000679.1:g.59668308C>T GRCh37
NC_000017.9:g.57023090C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000521764.3:c.234G>A MANE Select ENSP00000427802.1:p.Lys78=
ENST00000521764.2:c.234G>A ENSP00000427802.1:p.Lys78=
NM_199290.3:c.234G>A NP_954984.1:p.Lys78=
NM_199290.4:c.234G>A MANE Select NP_954984.1:p.Lys78=
Search 100 bp 5'
Search 100 bp 3'