Canonical Allele Identifier: CA1470731307

Gene: BMP2K

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78865659A= , CM000666.2:g.78865659A=	GRCh38
NC_000004.11:g.79786813A= , CM000666.1:g.79786813A=	GRCh37
NC_000004.10:g.80005837A=	NCBI36
NG_047162.1:g.94282A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.1170A= MANE Select	ENSP00000424668.2:p.Gln390=
ENST00000335016.9:c.1170A=	ENSP00000334836.5:p.Gln390=
ENST00000389010.7:c.*146A=	ENSP00000373662.3:n.*146A=
ENST00000502613.1:c.247A=
ENST00000502871.5:c.1170A=	ENSP00000421768.1:p.Gln390=
ENST00000505725.1:n.452A=
ENST00000628286.1:c.*146A=	ENSP00000487317.1:n.*146A=
NM_017593.3:c.1170A=	NP_060063.2:p.Gln390=
NM_198892.1:c.1170A=	NP_942595.1:p.Gln390=
XM_005263117.1:c.1170A=	XP_005263174.1:p.Gln390=
XM_011532101.1:c.930A=	XP_011530403.1:p.Gln310=
XM_011532102.1:c.1170A=	XP_011530404.1:p.Gln390=
XM_017008381.1:c.930A=	XP_016863870.1:p.Gln310=
XM_017008382.1:c.282A=	XP_016863871.1:p.Gln94=
NM_017593.4:c.1170A=	NP_060063.2:p.Gln390=
NM_017593.5:c.1170A=	NP_060063.2:p.Gln390=
NM_198892.2:c.1170A= MANE Select	NP_942595.1:p.Gln390=