Canonical Allele Identifier: CA1470731370
Gene: BMP2K HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78865697A= , CM000666.2:g.78865697A= GRCh38
NC_000004.11:g.79786851A= , CM000666.1:g.79786851A= GRCh37
NC_000004.10:g.80005875A= NCBI36
NG_047162.1:g.94320A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000502613.3:c.1208A= MANE Select ENSP00000424668.2:p.Glu403=
ENST00000335016.9:c.1208A= ENSP00000334836.5:p.Glu403=
ENST00000389010.7:c.*184A= ENSP00000373662.3:n.*184A=
ENST00000502613.1:c.285A=
ENST00000502871.5:c.1208A= ENSP00000421768.1:p.Glu403=
ENST00000505725.1:n.490A=
ENST00000628286.1:c.*184A= ENSP00000487317.1:n.*184A=
NM_017593.3:c.1208A= NP_060063.2:p.Glu403=
NM_198892.1:c.1208A= NP_942595.1:p.Glu403=
XM_005263117.1:c.1208A= XP_005263174.1:p.Glu403=
XM_011532101.1:c.968A= XP_011530403.1:p.Glu323=
XM_011532102.1:c.1208A= XP_011530404.1:p.Glu403=
XM_017008381.1:c.968A= XP_016863870.1:p.Glu323=
XM_017008382.1:c.320A= XP_016863871.1:p.Glu107=
NM_017593.4:c.1208A= NP_060063.2:p.Glu403=
NM_017593.5:c.1208A= NP_060063.2:p.Glu403=
NM_198892.2:c.1208A= MANE Select NP_942595.1:p.Glu403=