Canonical Allele Identifier: CA4996036
Community Standard Title: NM_017637.6(BNC2):c.1648T>G (p.Leu550Val)
Gene: BNC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.16436546A>C , CM000671.2:g.16436546A>C GRCh38
NC_000009.11:g.16436544A>C , CM000671.1:g.16436544A>C GRCh37
NC_000009.10:g.16426544A>C NCBI36
NG_051226.1:g.439293T>G

Transcript Alleles

HGVS Amino-acid Change
NM_017637.6:c.1648T>G MANE Select NP_060107.3:p.Leu550Val
ENST00000380672.9:c.1648T>G MANE Select ENSP00000370047.3:p.Leu550Val
NM_001317939.1:c.1522T>G NP_001304868.1:p.Leu508Val
NM_001317939.2:c.1522T>G NP_001304868.1:p.Leu508Val
NM_001317940.1:c.1363T>G NP_001304869.1:p.Leu455Val
NM_001317940.2:c.1363T>G NP_001304869.1:p.Leu455Val
NM_017637.5:c.1648T>G NP_060107.3:p.Leu550Val
ENST00000380667.6:c.1447T>G ENSP00000370042.1:p.Leu483Val
ENST00000380672.8:c.1648T>G ENSP00000370047.3:p.Leu550Val
ENST00000418777.5:c.1519T>G ENSP00000408370.1:p.Leu507Val
ENST00000484726.5:c.1648T>G ENSP00000431516.1:p.Leu550Val
ENST00000545497.5:c.1126T>G ENSP00000444640.2:p.Leu376Val
ENST00000700553.1:c.1318T>G ENSP00000515060.1:p.Leu440Val
XM_011517921.1:c.1732T>G XP_011516223.1:p.Leu578Val
XM_011517922.1:c.1690T>G XP_011516224.1:p.Leu564Val
XM_011517923.1:c.1690T>G XP_011516225.1:p.Leu564Val
XM_011517924.1:c.1522T>G XP_011516226.1:p.Leu508Val
XM_011517924.2:c.1522T>G XP_011516226.1:p.Leu508Val
XM_011517925.1:c.1351T>G XP_011516227.1:p.Leu451Val
XM_011517926.1:c.1321T>G XP_011516228.1:p.Leu441Val
XM_011517927.1:c.1126T>G XP_011516229.1:p.Leu376Val
XM_011517928.1:c.1774T>G XP_011516230.1:p.Leu592Val
XM_011517929.1:c.943T>G XP_011516231.1:p.Leu315Val
XM_011517930.1:c.943T>G XP_011516232.1:p.Leu315Val
XM_011517931.1:c.943T>G XP_011516233.1:p.Leu315Val
XM_011517932.1:c.943T>G XP_011516234.1:p.Leu315Val
XM_011517933.1:c.1522T>G XP_011516235.1:p.Leu508Val
XM_011517934.1:c.1126T>G XP_011516236.1:p.Leu376Val
XM_011517934.2:c.1126T>G XP_011516236.1:p.Leu376Val
XM_017014816.1:c.1774T>G XP_016870305.1:p.Leu592Val
XM_017014817.1:c.1774T>G XP_016870306.1:p.Leu592Val
XM_017014818.1:c.1690T>G XP_016870307.1:p.Leu564Val
XM_017014819.1:c.1774T>G XP_016870308.1:p.Leu592Val
XM_017014820.1:c.1774T>G XP_016870309.1:p.Leu592Val
XM_017014821.1:c.1690T>G XP_016870310.1:p.Leu564Val
XM_017014822.1:c.1321T>G XP_016870311.1:p.Leu441Val
XM_017014823.1:c.1321T>G XP_016870312.1:p.Leu441Val
XM_017014824.1:c.1126T>G XP_016870313.1:p.Leu376Val
XM_017014825.2:c.1774T>G XP_016870314.1:p.Leu592Val
XM_017014826.1:c.1774T>G XP_016870315.1:p.Leu592Val
XM_017014827.1:c.1774T>G XP_016870316.1:p.Leu592Val
XM_017014828.1:c.1774T>G XP_016870317.1:p.Leu592Val
XM_017014829.2:c.943T>G XP_016870318.1:p.Leu315Val