Canonical Allele Identifier: CA400783957

Gene: NACA2

Linked Data

• dbSNP Id: rs2060996126
• gnomAD v3: 17-61590718-C-T
• gnomAD v4: 17-61590718-C-T
• MyVariant Identifiers: chr17:g.59668079C>T (hg19) ; chr17:g.61590718C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61590718C>T , CM000679.2:g.61590718C>T	GRCh38
NC_000017.10:g.59668079C>T , CM000679.1:g.59668079C>T	GRCh37
NC_000017.9:g.57022861C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521764.3:c.463G>A MANE Select	ENSP00000427802.1:p.Glu155Lys
ENST00000521764.2:c.463G>A	ENSP00000427802.1:p.Glu155Lys
NM_199290.3:c.463G>A	NP_954984.1:p.Glu155Lys
NM_199290.4:c.463G>A MANE Select	NP_954984.1:p.Glu155Lys