Canonical Allele Identifier: CA400783938

Gene: NACA2

Linked Data

• dbSNP Id: rs1386626311
• gnomAD v2: 17-59668070-G-T
• gnomAD v4: 17-61590709-G-T
• MyVariant Identifiers: chr17:g.59668070G>T (hg19) ; chr17:g.61590709G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61590709G>T , CM000679.2:g.61590709G>T	GRCh38
NC_000017.10:g.59668070G>T , CM000679.1:g.59668070G>T	GRCh37
NC_000017.9:g.57022852G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521764.3:c.472C>A MANE Select	ENSP00000427802.1:p.Gln158Lys
ENST00000521764.2:c.472C>A	ENSP00000427802.1:p.Gln158Lys
NM_199290.3:c.472C>A	NP_954984.1:p.Gln158Lys
NM_199290.4:c.472C>A MANE Select	NP_954984.1:p.Gln158Lys