Canonical Allele Identifier: CA357378670
Gene: BMP2K HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78865688C>A , CM000666.2:g.78865688C>A GRCh38
NC_000004.11:g.79786842C>A , CM000666.1:g.79786842C>A GRCh37
NC_000004.10:g.80005866C>A NCBI36
NG_047162.1:g.94311C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000502613.3:c.1199C>A MANE Select ENSP00000424668.2:p.Ala400Asp
ENST00000335016.9:c.1199C>A ENSP00000334836.5:p.Ala400Asp
ENST00000389010.7:c.*175C>A ENSP00000373662.3:n.*175C>A
ENST00000502613.1:c.276C>A
ENST00000502871.5:c.1199C>A ENSP00000421768.1:p.Ala400Asp
ENST00000505725.1:n.481C>A
ENST00000628286.1:c.*175C>A ENSP00000487317.1:n.*175C>A
NM_017593.3:c.1199C>A NP_060063.2:p.Ala400Asp
NM_198892.1:c.1199C>A NP_942595.1:p.Ala400Asp
XM_005263117.1:c.1199C>A XP_005263174.1:p.Ala400Asp
XM_011532101.1:c.959C>A XP_011530403.1:p.Ala320Asp
XM_011532102.1:c.1199C>A XP_011530404.1:p.Ala400Asp
XM_017008381.1:c.959C>A XP_016863870.1:p.Ala320Asp
XM_017008382.1:c.311C>A XP_016863871.1:p.Ala104Asp
NM_017593.4:c.1199C>A NP_060063.2:p.Ala400Asp
NM_017593.5:c.1199C>A NP_060063.2:p.Ala400Asp
NM_198892.2:c.1199C>A MANE Select NP_942595.1:p.Ala400Asp