Canonical Allele Identifier: CA4996372

Gene: BNC2

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.16727956C>G , CM000671.2:g.16727956C>G	GRCh38
NC_000009.11:g.16727954C>G , CM000671.1:g.16727954C>G	GRCh37
NC_000009.10:g.16717954C>G	NCBI36
NG_051226.1:g.147883G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_017637.6:c.171G>C MANE Select	NP_060107.3:p.Gln57His
ENST00000380672.9:c.171G>C MANE Select	ENSP00000370047.3:p.Gln57His
NM_001317939.1:c.45G>C	NP_001304868.1:p.Gln15His
NM_001317939.2:c.45G>C	NP_001304868.1:p.Gln15His
NM_001317940.1:c.45+104288G>C	NP_001304869.1:n.45+104288G>C
NM_001317940.2:c.45+104288G>C	NP_001304869.1:n.45+104288G>C
NM_017637.5:c.171G>C	NP_060107.3:p.Gln57His
ENST00000380666.6:c.-64G>C	ENSP00000370041.3:n.-64G>C
ENST00000380667.6:c.129+10404G>C	ENSP00000370042.1:n.129+10404G>C
ENST00000380672.8:c.171G>C	ENSP00000370047.3:p.Gln57His
ENST00000418777.5:c.42G>C	ENSP00000408370.1:p.Gln14His
ENST00000468187.6:c.42G>C	ENSP00000474468.1:p.Gln14His
ENST00000484726.5:c.171G>C	ENSP00000431516.1:p.Gln57His
ENST00000486514.5:c.45G>C	ENSP00000474647.1:p.Gln15His
ENST00000545497.5:c.-352G>C	ENSP00000444640.2:n.-352G>C
ENST00000603313.5:c.-64G>C	ENSP00000473935.1:n.-64G>C
ENST00000603713.5:c.-64G>C	ENSP00000474045.1:n.-64G>C
ENST00000613349.4:c.-64G>C	ENSP00000477717.1:n.-64G>C
ENST00000617779.1:c.-64G>C	ENSP00000482793.1:n.-64G>C
XM_011517921.1:c.171G>C	XP_011516223.1:p.Gln57His
XM_011517922.1:c.213G>C	XP_011516224.1:p.Gln71His
XM_011517923.1:c.213G>C	XP_011516225.1:p.Gln71His
XM_011517924.1:c.45G>C	XP_011516226.1:p.Gln15His
XM_011517924.2:c.45G>C	XP_011516226.1:p.Gln15His
XM_011517926.1:c.3+142690G>C	XP_011516228.1:n.3+142690G>C
XM_011517928.1:c.213G>C	XP_011516230.1:p.Gln71His
XM_011517933.1:c.45G>C	XP_011516235.1:p.Gln15His
XM_017014816.1:c.213G>C	XP_016870305.1:p.Gln71His
XM_017014817.1:c.213G>C	XP_016870306.1:p.Gln71His
XM_017014818.1:c.213G>C	XP_016870307.1:p.Gln71His
XM_017014819.1:c.213G>C	XP_016870308.1:p.Gln71His
XM_017014820.1:c.213G>C	XP_016870309.1:p.Gln71His
XM_017014821.1:c.213G>C	XP_016870310.1:p.Gln71His
XM_017014825.2:c.213G>C	XP_016870314.1:p.Gln71His
XM_017014826.1:c.213G>C	XP_016870315.1:p.Gln71His
XM_017014827.1:c.213G>C	XP_016870316.1:p.Gln71His
XM_017014828.1:c.213G>C	XP_016870317.1:p.Gln71His