Canonical Allele Identifier: CA464026559
Community Standard Title: NM_017637.6(BNC2):c.2116A>C (p.Arg706=)
Gene: BNC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.16436078T>G , CM000671.2:g.16436078T>G GRCh38
NC_000009.11:g.16436076T>G , CM000671.1:g.16436076T>G GRCh37
NC_000009.10:g.16426076T>G NCBI36
NG_051226.1:g.439761A>C

Transcript Alleles

HGVS Amino-acid Change
NM_017637.6:c.2116A>C MANE Select NP_060107.3:p.Arg706=
ENST00000380672.9:c.2116A>C MANE Select ENSP00000370047.3:p.Arg706=
NM_001317939.1:c.1990A>C NP_001304868.1:p.Arg664=
NM_001317939.2:c.1990A>C NP_001304868.1:p.Arg664=
NM_001317940.1:c.1831A>C NP_001304869.1:p.Arg611=
NM_001317940.2:c.1831A>C NP_001304869.1:p.Arg611=
NM_017637.5:c.2116A>C NP_060107.3:p.Arg706=
ENST00000380667.6:c.1915A>C ENSP00000370042.1:p.Arg639=
ENST00000380672.8:c.2116A>C ENSP00000370047.3:p.Arg706=
ENST00000411752.5:c.295A>C ENSP00000392212.1:p.Arg99=
ENST00000418777.5:c.1987A>C ENSP00000408370.1:p.Arg663=
ENST00000484726.5:c.2116A>C ENSP00000431516.1:p.Arg706=
ENST00000545497.5:c.1594A>C ENSP00000444640.2:p.Arg532=
ENST00000700553.1:c.1786A>C ENSP00000515060.1:p.Arg596=
XM_011517921.1:c.2200A>C XP_011516223.1:p.Arg734=
XM_011517922.1:c.2158A>C XP_011516224.1:p.Arg720=
XM_011517923.1:c.2158A>C XP_011516225.1:p.Arg720=
XM_011517924.1:c.1990A>C XP_011516226.1:p.Arg664=
XM_011517924.2:c.1990A>C XP_011516226.1:p.Arg664=
XM_011517925.1:c.1819A>C XP_011516227.1:p.Arg607=
XM_011517926.1:c.1789A>C XP_011516228.1:p.Arg597=
XM_011517927.1:c.1594A>C XP_011516229.1:p.Arg532=
XM_011517928.1:c.2242A>C XP_011516230.1:p.Arg748=
XM_011517929.1:c.1411A>C XP_011516231.1:p.Arg471=
XM_011517930.1:c.1411A>C XP_011516232.1:p.Arg471=
XM_011517931.1:c.1411A>C XP_011516233.1:p.Arg471=
XM_011517932.1:c.1411A>C XP_011516234.1:p.Arg471=
XM_011517933.1:c.1990A>C XP_011516235.1:p.Arg664=
XM_011517934.1:c.1594A>C XP_011516236.1:p.Arg532=
XM_011517934.2:c.1594A>C XP_011516236.1:p.Arg532=
XM_017014816.1:c.2242A>C XP_016870305.1:p.Arg748=
XM_017014817.1:c.2242A>C XP_016870306.1:p.Arg748=
XM_017014818.1:c.2158A>C XP_016870307.1:p.Arg720=
XM_017014819.1:c.2242A>C XP_016870308.1:p.Arg748=
XM_017014820.1:c.2242A>C XP_016870309.1:p.Arg748=
XM_017014821.1:c.2158A>C XP_016870310.1:p.Arg720=
XM_017014822.1:c.1789A>C XP_016870311.1:p.Arg597=
XM_017014823.1:c.1789A>C XP_016870312.1:p.Arg597=
XM_017014824.1:c.1594A>C XP_016870313.1:p.Arg532=
XM_017014825.2:c.2242A>C XP_016870314.1:p.Arg748=
XM_017014826.1:c.2242A>C XP_016870315.1:p.Arg748=
XM_017014827.1:c.2242A>C XP_016870316.1:p.Arg748=
XM_017014828.1:c.2242A>C XP_016870317.1:p.Arg748=
XM_017014829.2:c.1411A>C XP_016870318.1:p.Arg471=