Canonical Allele Identifier: CA10586477
Gene: NPRL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 254364
ClinVar RCV Id: RCV000241152
dbSNP Id: rs886037965
gnomAD v4: 3-50349690-A-G
MyVariant Identifiers: chr3:g.50387121A>G (hg19) chr3:g.50349690A>G (hg38)
PubMed: PMID:26505888
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50349690A>G , CM000665.2:g.50349690A>G GRCh38
NC_000003.11:g.50387121A>G , CM000665.1:g.50387121A>G GRCh37
NC_000003.10:g.50362125A>G NCBI36
NG_042828.1:g.1057T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000232501.8:c.314T>C MANE Select ENSP00000232501.3:p.Leu105Pro
ENST00000667046.1:c.314T>C ENSP00000499627.1:p.Leu105Pro
ENST00000667631.1:n.1023T>C
ENST00000671487.1:n.448T>C
ENST00000232501.7:c.314T>C ENSP00000232501.3:p.Leu105Pro
ENST00000418825.5:c.*45T>C ENSP00000396172.1:n.*45T>C
ENST00000429366.5:c.171-196T>C ENSP00000412779.1:n.171-196T>C
ENST00000433381.5:c.*45T>C ENSP00000388019.1:n.*45T>C
ENST00000433999.5:c.*158T>C ENSP00000415045.1:n.*158T>C
ENST00000448302.1:c.*45T>C ENSP00000389429.1:n.*45T>C
ENST00000451194.5:c.*45T>C ENSP00000388358.1:n.*45T>C
ENST00000461020.5:n.991T>C
ENST00000467294.1:n.996T>C
ENST00000469839.1:n.437T>C
ENST00000476064.5:n.538T>C
ENST00000479512.5:n.973T>C
ENST00000480296.5:n.676T>C
ENST00000487632.5:n.981T>C
ENST00000493907.1:n.580T>C
NM_006545.4:c.314T>C NP_006536.3:p.Leu105Pro
XM_005264806.1:c.137T>C XP_005264863.1:p.Leu46Pro
XM_005264808.3:c.-43T>C XP_005264865.1:n.-43T>C
XM_011533287.1:c.392T>C XP_011531589.1:p.Leu131Pro
XM_011533288.1:c.305T>C XP_011531590.1:p.Leu102Pro
XM_011533289.1:c.392T>C XP_011531591.1:p.Leu131Pro
XR_940364.1:n.483T>C
XM_005264808.5:c.-43T>C XP_005264865.1:n.-43T>C
XM_011533288.3:c.305T>C XP_011531590.1:p.Leu102Pro
XM_017005555.1:c.-43T>C XP_016861044.1:n.-43T>C
XM_017005556.2:c.-43T>C XP_016861045.1:n.-43T>C
XR_001739981.1:n.654T>C
XR_001739982.1:n.483T>C
XR_001739983.1:n.593T>C
NM_006545.5:c.314T>C MANE Select NP_006536.3:p.Leu105Pro
Search 100 bp 5'
Search 100 bp 3'