Canonical Allele Identifier: CA400783667
Gene: NACA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61590585A>G , CM000679.2:g.61590585A>G GRCh38
NC_000017.10:g.59667946A>G , CM000679.1:g.59667946A>G GRCh37
NC_000017.9:g.57022728A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000521764.3:c.596T>C MANE Select ENSP00000427802.1:p.Leu199Pro
ENST00000521764.2:c.596T>C ENSP00000427802.1:p.Leu199Pro
NM_199290.3:c.596T>C NP_954984.1:p.Leu199Pro
NM_199290.4:c.596T>C MANE Select NP_954984.1:p.Leu199Pro