Canonical Allele Identifier: CA372986874
Community Standard Title: NM_017637.6(BNC2):c.3026C>T (p.Pro1009Leu)
Gene: BNC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.16419263G>A , CM000671.2:g.16419263G>A GRCh38
NC_000009.11:g.16419261G>A , CM000671.1:g.16419261G>A GRCh37
NC_000009.10:g.16409261G>A NCBI36
NG_051226.1:g.456576C>T

Transcript Alleles

HGVS Amino-acid Change
NM_017637.6:c.3026C>T MANE Select NP_060107.3:p.Pro1009Leu
ENST00000380672.9:c.3026C>T MANE Select ENSP00000370047.3:p.Pro1009Leu
NM_001317939.1:c.*370C>T NP_001304868.1:n.*370C>T
NM_001317939.2:c.*370C>T NP_001304868.1:n.*370C>T
NM_001317940.1:c.2741C>T NP_001304869.1:p.Pro914Leu
NM_001317940.2:c.2741C>T NP_001304869.1:p.Pro914Leu
NM_017637.5:c.3026C>T NP_060107.3:p.Pro1009Leu
ENST00000380667.6:c.2825C>T ENSP00000370042.1:p.Pro942Leu
ENST00000380672.8:c.3026C>T ENSP00000370047.3:p.Pro1009Leu
ENST00000411752.5:c.1386C>T ENSP00000392212.1:n.1386C>T
ENST00000418777.5:c.2953C>T ENSP00000408370.1:n.2953C>T
ENST00000484726.5:c.*1048C>T ENSP00000431516.1:n.*1048C>T
ENST00000545497.5:c.*370C>T ENSP00000444640.2:n.*370C>T
ENST00000700553.1:c.2762C>T ENSP00000515060.1:p.Pro921Leu
XM_011517921.1:c.3251C>T XP_011516223.1:p.Pro1084Leu
XM_011517922.1:c.3209C>T XP_011516224.1:p.Pro1070Leu
XM_011517923.1:c.3068C>T XP_011516225.1:p.Pro1023Leu
XM_011517924.1:c.3041C>T XP_011516226.1:p.Pro1014Leu
XM_011517924.2:c.3041C>T XP_011516226.1:p.Pro1014Leu
XM_011517925.1:c.2870C>T XP_011516227.1:p.Pro957Leu
XM_011517926.1:c.2840C>T XP_011516228.1:p.Pro947Leu
XM_011517927.1:c.2645C>T XP_011516229.1:p.Pro882Leu
XM_011517928.1:c.*370C>T XP_011516230.1:n.*370C>T
XM_011517929.1:c.2462C>T XP_011516231.1:p.Pro821Leu
XM_011517930.1:c.2462C>T XP_011516232.1:p.Pro821Leu
XM_011517931.1:c.2462C>T XP_011516233.1:p.Pro821Leu
XM_011517932.1:c.2462C>T XP_011516234.1:p.Pro821Leu
XM_011517933.1:c.*370C>T XP_011516235.1:n.*370C>T
XM_017014816.1:c.3293C>T XP_016870305.1:p.Pro1098Leu
XM_017014817.1:c.3218C>T XP_016870306.1:p.Pro1073Leu
XM_017014818.1:c.3209C>T XP_016870307.1:p.Pro1070Leu
XM_017014819.1:c.3152C>T XP_016870308.1:p.Pro1051Leu
XM_017014820.1:c.3146C>T XP_016870309.1:p.Pro1049Leu
XM_017014821.1:c.3068C>T XP_016870310.1:p.Pro1023Leu
XM_017014822.1:c.2840C>T XP_016870311.1:p.Pro947Leu
XM_017014823.1:c.2840C>T XP_016870312.1:p.Pro947Leu
XM_017014824.1:c.2645C>T XP_016870313.1:p.Pro882Leu
XM_017014825.2:c.*402C>T XP_016870314.1:n.*402C>T
XM_017014826.1:c.*370C>T XP_016870315.1:n.*370C>T
XM_017014829.2:c.*402C>T XP_016870318.1:n.*402C>T