Canonical Allele Identifier: CA501351093
Gene: NACA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.59668242C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61590881C>T , CM000679.2:g.61590881C>T GRCh38
NC_000017.10:g.59668242C>T , CM000679.1:g.59668242C>T GRCh37
NC_000017.9:g.57023024C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000521764.3:c.300G>A MANE Select ENSP00000427802.1:p.Lys100=
ENST00000521764.2:c.300G>A ENSP00000427802.1:p.Lys100=
NM_199290.3:c.300G>A NP_954984.1:p.Lys100=
NM_199290.4:c.300G>A MANE Select NP_954984.1:p.Lys100=