Canonical Allele Identifier: CA5330033

Gene: NACC2

Linked Data

• ClinVar Variation Id: 2559372
• ClinVar RCV Id: RCV004329664
• dbSNP Id: rs748465703
• ExAC: 9:138908218 C / T
• gnomAD v2: 9-138908218-C-T
• gnomAD v3: 9-136016372-C-T
• gnomAD v4: 9-136016372-C-T
• COSMIC: COSM1137968
• MyVariant Identifiers: chr9:g.138908218C>T (hg19) ; chr9:g.136016372C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136016372C>T , CM000671.2:g.136016372C>T	GRCh38
NC_000009.11:g.138908218C>T , CM000671.1:g.138908218C>T	GRCh37
NC_000009.10:g.138048039C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000277554.4:c.944G>A MANE Select	ENSP00000277554.2:p.Arg315His
ENST00000277554.3:c.944G>A	ENSP00000277554.2:p.Arg315His
ENST00000371753.5:c.944G>A	ENSP00000360818.1:p.Arg315His
ENST00000467669.1:n.371G>A
NM_144653.4:c.944G>A	NP_653254.1:p.Arg315His
XM_011518221.1:c.944G>A	XP_011516523.1:p.Arg315His
XM_011518221.2:c.944G>A	XP_011516523.1:p.Arg315His
NM_144653.5:c.944G>A MANE Select	NP_653254.1:p.Arg315His