Canonical Allele Identifier: CA5697783

Gene: NHLRC2

Linked Data

• ClinVar Variation Id: 599377
• ClinVar RCV Id: RCV000736008 ; RCV003228985
• dbSNP Id: rs201701259
• ExAC: 10:115636390 G / T
• gnomAD v2: 10-115636390-G-T
• gnomAD v3: 10-113876631-G-T
• gnomAD v4: 10-113876631-G-T
• MyVariant Identifiers: chr10:g.115636390G>T (hg19) ; chr10:g.113876631G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.113876631G>T , CM000672.2:g.113876631G>T	GRCh38
NC_000010.10:g.115636390G>T , CM000672.1:g.115636390G>T	GRCh37
NC_000010.9:g.115626380G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369301.3:c.442G>T MANE Select	ENSP00000358307.3:p.Asp148Tyr
NM_198514.3:c.442G>T	NP_940916.2:p.Asp148Tyr
XM_011539769.1:c.442G>T	XP_011538071.1:p.Asp148Tyr
XM_011539769.3:c.442G>T	XP_011538071.1:p.Asp148Tyr
NM_198514.4:c.442G>T MANE Select	NP_940916.2:p.Asp148Tyr