Canonical Allele Identifier: CA8690161
Gene: NACA2 HGNC NCBI

Linked Data

dbSNP Id: rs753180433
ExAC: 17:59667923 C / A
gnomAD v2: 17-59667923-C-A
gnomAD v4: 17-61590562-C-A
MyVariant Identifiers: chr17:g.59667923C>A (hg19) chr17:g.61590562C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61590562C>A , CM000679.2:g.61590562C>A GRCh38
NC_000017.10:g.59667923C>A , CM000679.1:g.59667923C>A GRCh37
NC_000017.9:g.57022705C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000521764.3:c.619G>T MANE Select ENSP00000427802.1:p.Val207Leu
ENST00000521764.2:c.619G>T ENSP00000427802.1:p.Val207Leu
NM_199290.3:c.619G>T NP_954984.1:p.Val207Leu
NM_199290.4:c.619G>T MANE Select NP_954984.1:p.Val207Leu
Search 100 bp 5'
Search 100 bp 3'