Canonical Allele Identifier: CA8690174

Gene: NACA2

Linked Data

• dbSNP Id: rs576671225
• ExAC: 17:59667965 C / A
• gnomAD v2: 17-59667965-C-A
• gnomAD v3: 17-61590604-C-A
• gnomAD v4: 17-61590604-C-A
• MyVariant Identifiers: chr17:g.59667965C>A (hg19) ; chr17:g.61590604C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61590604C>A , CM000679.2:g.61590604C>A	GRCh38
NC_000017.10:g.59667965C>A , CM000679.1:g.59667965C>A	GRCh37
NC_000017.9:g.57022747C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521764.3:c.577G>T MANE Select	ENSP00000427802.1:p.Ala193Ser
ENST00000521764.2:c.577G>T	ENSP00000427802.1:p.Ala193Ser
NM_199290.3:c.577G>T	NP_954984.1:p.Ala193Ser
NM_199290.4:c.577G>T MANE Select	NP_954984.1:p.Ala193Ser