Canonical Allele Identifier: CA400783997
Gene: NACA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61590739C>T , CM000679.2:g.61590739C>T GRCh38
NC_000017.10:g.59668100C>T , CM000679.1:g.59668100C>T GRCh37
NC_000017.9:g.57022882C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000521764.3:c.442G>A MANE Select ENSP00000427802.1:p.Glu148Lys
ENST00000521764.2:c.442G>A ENSP00000427802.1:p.Glu148Lys
NM_199290.3:c.442G>A NP_954984.1:p.Glu148Lys
NM_199290.4:c.442G>A MANE Select NP_954984.1:p.Glu148Lys