Canonical Allele Identifier: CA400783565

Gene: NACA2

Linked Data

• dbSNP Id: rs2060994969
• gnomAD v3: 17-61590540-G-A
• gnomAD v4: 17-61590540-G-A
• MyVariant Identifiers: chr17:g.59667901G>A (hg19) ; chr17:g.61590540G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61590540G>A , CM000679.2:g.61590540G>A	GRCh38
NC_000017.10:g.59667901G>A , CM000679.1:g.59667901G>A	GRCh37
NC_000017.9:g.57022683G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521764.3:c.641C>T MANE Select	ENSP00000427802.1:p.Thr214Ile
ENST00000521764.2:c.641C>T	ENSP00000427802.1:p.Thr214Ile
NM_199290.3:c.641C>T	NP_954984.1:p.Thr214Ile
NM_199290.4:c.641C>T MANE Select	NP_954984.1:p.Thr214Ile