Canonical Allele Identifier: CA292793839
Gene: NACA2 HGNC NCBI

Linked Data

dbSNP Id: rs539569033
gnomAD v3: 17-61590790-A-T
gnomAD v4: 17-61590790-A-T
MyVariant Identifiers: chr17:g.59668151A>T (hg19) chr17:g.61590790A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61590790A>T , CM000679.2:g.61590790A>T GRCh38
NC_000017.10:g.59668151A>T , CM000679.1:g.59668151A>T GRCh37
NC_000017.9:g.57022933A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000521764.3:c.391T>A MANE Select ENSP00000427802.1:p.Leu131Ile
ENST00000521764.2:c.391T>A ENSP00000427802.1:p.Leu131Ile
NM_199290.3:c.391T>A NP_954984.1:p.Leu131Ile
NM_199290.4:c.391T>A MANE Select NP_954984.1:p.Leu131Ile
Search 100 bp 5'
Search 100 bp 3'