Canonical Allele Identifier: CA5698160

Gene: NHLRC2

Linked Data

• ClinVar Variation Id: 2547234
• ClinVar RCV Id: RCV003277196
• dbSNP Id: rs202048071
• ExAC: 10:115668161 A / T
• gnomAD v2: 10-115668161-A-T
• gnomAD v3: 10-113908402-A-T
• gnomAD v4: 10-113908402-A-T
• MyVariant Identifiers: chr10:g.115668161A>T (hg19) ; chr10:g.113908402A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.113908402A>T , CM000672.2:g.113908402A>T	GRCh38
NC_000010.10:g.115668161A>T , CM000672.1:g.115668161A>T	GRCh37
NC_000010.9:g.115658151A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369301.3:c.2047A>T MANE Select	ENSP00000358307.3:p.Ser683Cys
NM_198514.3:c.2047A>T	NP_940916.2:p.Ser683Cys
NM_198514.4:c.2047A>T MANE Select	NP_940916.2:p.Ser683Cys