Canonical Allele Identifier: CA400784402
Gene: NACA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61590934G>T , CM000679.2:g.61590934G>T GRCh38
NC_000017.10:g.59668295G>T , CM000679.1:g.59668295G>T GRCh37
NC_000017.9:g.57023077G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000521764.3:c.247C>A MANE Select ENSP00000427802.1:p.Leu83Met
ENST00000521764.2:c.247C>A ENSP00000427802.1:p.Leu83Met
NM_199290.3:c.247C>A NP_954984.1:p.Leu83Met
NM_199290.4:c.247C>A MANE Select NP_954984.1:p.Leu83Met