Canonical Allele Identifier: CA8690222
Gene: NACA2 HGNC NCBI

Linked Data

dbSNP Id: rs140262638
ExAC: 17:59668199 G / A
gnomAD v2: 17-59668199-G-A
gnomAD v4: 17-61590838-G-A
COSMIC: COSM4489171
MyVariant Identifiers: chr17:g.59668199G>A (hg19) chr17:g.61590838G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61590838G>A , CM000679.2:g.61590838G>A GRCh38
NC_000017.10:g.59668199G>A , CM000679.1:g.59668199G>A GRCh37
NC_000017.9:g.57022981G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000521764.3:c.343C>T MANE Select ENSP00000427802.1:p.Pro115Ser
ENST00000521764.2:c.343C>T ENSP00000427802.1:p.Pro115Ser
NM_199290.3:c.343C>T NP_954984.1:p.Pro115Ser
NM_199290.4:c.343C>T MANE Select NP_954984.1:p.Pro115Ser
Search 100 bp 5'
Search 100 bp 3'