Canonical Allele Identifier: CA372995013
Community Standard Title: NM_017637.6(BNC2):c.1010G>C (p.Gly337Ala)
Gene: BNC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.16437184C>G , CM000671.2:g.16437184C>G GRCh38
NC_000009.11:g.16437182C>G , CM000671.1:g.16437182C>G GRCh37
NC_000009.10:g.16427182C>G NCBI36
NG_051226.1:g.438655G>C

Transcript Alleles

HGVS Amino-acid Change
NM_017637.6:c.1010G>C MANE Select NP_060107.3:p.Gly337Ala
ENST00000380672.9:c.1010G>C MANE Select ENSP00000370047.3:p.Gly337Ala
NM_001317939.1:c.884G>C NP_001304868.1:p.Gly295Ala
NM_001317939.2:c.884G>C NP_001304868.1:p.Gly295Ala
NM_001317940.1:c.725G>C NP_001304869.1:p.Gly242Ala
NM_001317940.2:c.725G>C NP_001304869.1:p.Gly242Ala
NM_017637.5:c.1010G>C NP_060107.3:p.Gly337Ala
ENST00000380666.6:c.776G>C ENSP00000370041.3:p.Gly259Ala
ENST00000380667.6:c.809G>C ENSP00000370042.1:p.Gly270Ala
ENST00000380672.8:c.1010G>C ENSP00000370047.3:p.Gly337Ala
ENST00000418777.5:c.881G>C ENSP00000408370.1:p.Gly294Ala
ENST00000484726.5:c.1010G>C ENSP00000431516.1:p.Gly337Ala
ENST00000545497.5:c.488G>C ENSP00000444640.2:p.Gly163Ala
ENST00000700553.1:c.680G>C ENSP00000515060.1:p.Gly227Ala
XM_011517921.1:c.1094G>C XP_011516223.1:p.Gly365Ala
XM_011517922.1:c.1052G>C XP_011516224.1:p.Gly351Ala
XM_011517923.1:c.1052G>C XP_011516225.1:p.Gly351Ala
XM_011517924.1:c.884G>C XP_011516226.1:p.Gly295Ala
XM_011517924.2:c.884G>C XP_011516226.1:p.Gly295Ala
XM_011517925.1:c.713G>C XP_011516227.1:p.Gly238Ala
XM_011517926.1:c.683G>C XP_011516228.1:p.Gly228Ala
XM_011517927.1:c.488G>C XP_011516229.1:p.Gly163Ala
XM_011517928.1:c.1136G>C XP_011516230.1:p.Gly379Ala
XM_011517929.1:c.305G>C XP_011516231.1:p.Gly102Ala
XM_011517930.1:c.305G>C XP_011516232.1:p.Gly102Ala
XM_011517931.1:c.305G>C XP_011516233.1:p.Gly102Ala
XM_011517932.1:c.305G>C XP_011516234.1:p.Gly102Ala
XM_011517933.1:c.884G>C XP_011516235.1:p.Gly295Ala
XM_011517934.1:c.488G>C XP_011516236.1:p.Gly163Ala
XM_011517934.2:c.488G>C XP_011516236.1:p.Gly163Ala
XM_017014816.1:c.1136G>C XP_016870305.1:p.Gly379Ala
XM_017014817.1:c.1136G>C XP_016870306.1:p.Gly379Ala
XM_017014818.1:c.1052G>C XP_016870307.1:p.Gly351Ala
XM_017014819.1:c.1136G>C XP_016870308.1:p.Gly379Ala
XM_017014820.1:c.1136G>C XP_016870309.1:p.Gly379Ala
XM_017014821.1:c.1052G>C XP_016870310.1:p.Gly351Ala
XM_017014822.1:c.683G>C XP_016870311.1:p.Gly228Ala
XM_017014823.1:c.683G>C XP_016870312.1:p.Gly228Ala
XM_017014824.1:c.488G>C XP_016870313.1:p.Gly163Ala
XM_017014825.2:c.1136G>C XP_016870314.1:p.Gly379Ala
XM_017014826.1:c.1136G>C XP_016870315.1:p.Gly379Ala
XM_017014827.1:c.1136G>C XP_016870316.1:p.Gly379Ala
XM_017014828.1:c.1136G>C XP_016870317.1:p.Gly379Ala
XM_017014829.2:c.305G>C XP_016870318.1:p.Gly102Ala