Canonical Allele Identifier: CA400783673

Gene: NACA2

Linked Data

• dbSNP Id: rs776627171
• gnomAD v2: 17-59667950-C-A
• gnomAD v4: 17-61590589-C-A
• MyVariant Identifiers: chr17:g.59667950C>A (hg19) ; chr17:g.61590589C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61590589C>A , CM000679.2:g.61590589C>A	GRCh38
NC_000017.10:g.59667950C>A , CM000679.1:g.59667950C>A	GRCh37
NC_000017.9:g.57022732C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521764.3:c.592G>T MANE Select	ENSP00000427802.1:p.Ala198Ser
ENST00000521764.2:c.592G>T	ENSP00000427802.1:p.Ala198Ser
NM_199290.3:c.592G>T	NP_954984.1:p.Ala198Ser
NM_199290.4:c.592G>T MANE Select	NP_954984.1:p.Ala198Ser