Canonical Allele Identifier: CA1470731248

Gene: BMP2K

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78865625C= , CM000666.2:g.78865625C=	GRCh38
NC_000004.11:g.79786779C= , CM000666.1:g.79786779C=	GRCh37
NC_000004.10:g.80005803C=	NCBI36
NG_047162.1:g.94248C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.1136C= MANE Select	ENSP00000424668.2:p.Ala379=
ENST00000335016.9:c.1136C=	ENSP00000334836.5:p.Ala379=
ENST00000389010.7:c.*112C=	ENSP00000373662.3:n.*112C=
ENST00000502613.1:c.213C=
ENST00000502871.5:c.1136C=	ENSP00000421768.1:p.Ala379=
ENST00000505725.1:n.418C=
ENST00000628286.1:c.*112C=	ENSP00000487317.1:n.*112C=
NM_017593.3:c.1136C=	NP_060063.2:p.Ala379=
NM_198892.1:c.1136C=	NP_942595.1:p.Ala379=
XM_005263117.1:c.1136C=	XP_005263174.1:p.Ala379=
XM_011532101.1:c.896C=	XP_011530403.1:p.Ala299=
XM_011532102.1:c.1136C=	XP_011530404.1:p.Ala379=
XM_017008381.1:c.896C=	XP_016863870.1:p.Ala299=
XM_017008382.1:c.248C=	XP_016863871.1:p.Ala83=
NM_017593.4:c.1136C=	NP_060063.2:p.Ala379=
NM_017593.5:c.1136C=	NP_060063.2:p.Ala379=
NM_198892.2:c.1136C= MANE Select	NP_942595.1:p.Ala379=