Canonical Allele Identifier: CA364068239
Gene: NCR2 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.41350690G>C
GRCh37 chr6:g.41318428G>C
Revel Score:
ENST00000373083 0.055
ENST00000373086 0.055
ENST00000373089 (MANE Select) 0.079
ClinVar Allele:
2279410
ClinVar RCV:
RCV004141956
ClinVar Variation:
2290904
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.41350690G>C , CM000668.2:g.41350690G>C GRCh38
NC_000006.11:g.41318428G>C , CM000668.1:g.41318428G>C GRCh37
NC_000006.10:g.41426406G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000373089.10:c.657G>C MANE Select ENSP00000362181.5:p.Trp219Cys
ENST00000373083.8:c.764G>C ENSP00000362175.4:p.Gly255Ala
ENST00000373086.3:c.800G>C ENSP00000362178.3:p.Gly267Ala
ENST00000373089.9:c.657G>C ENSP00000362181.5:p.Trp219Cys
NM_001199509.1:c.800G>C NP_001186438.1:p.Gly267Ala
NM_001199510.1:c.764G>C NP_001186439.1:p.Gly255Ala
NM_004828.3:c.657G>C NP_004819.2:p.Trp219Cys
NM_004828.4:c.657G>C MANE Select NP_004819.2:p.Trp219Cys
NM_001199509.2:c.800G>C NP_001186438.1:p.Gly267Ala
NM_001199510.2:c.764G>C NP_001186439.1:p.Gly255Ala
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