Canonical Allele Identifier: CA400783667

Gene: NACA2

Linked Data

• gnomAD v4: 17-61590585-A-G
• MyVariant Identifiers: chr17:g.59667946A>G (hg19) ; chr17:g.61590585A>G (hg38)

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