Canonical Allele Identifier: CA2671157132

Gene: BMP2K

Linked Data

• gnomAD v4: 4-78865713-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78865715del , CM000666.2:g.78865715del	GRCh38
NC_000004.11:g.79786869del , CM000666.1:g.79786869del	GRCh37
NC_000004.10:g.80005893del	NCBI36
NG_047162.1:g.94338del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.1226del MANE Select	ENSP00000424668.2:p.Pro409GlnfsTer5
ENST00000335016.9:c.1226del	ENSP00000334836.5:p.Pro409GlnfsTer5
ENST00000389010.7:c.*202del	ENSP00000373662.3:n.*202del
ENST00000502613.1:c.303del
ENST00000502871.5:c.1226del	ENSP00000421768.1:p.Pro409GlnfsTer5
ENST00000505725.1:n.508del
ENST00000628286.1:c.*202del	ENSP00000487317.1:n.*202del
NM_017593.3:c.1226del	NP_060063.2:p.Pro409GlnfsTer5
NM_198892.1:c.1226del	NP_942595.1:p.Pro409GlnfsTer5
XM_005263117.1:c.1226del	XP_005263174.1:p.Pro409GlnfsTer5
XM_011532101.1:c.986del	XP_011530403.1:p.Pro329GlnfsTer5
XM_011532102.1:c.1226del	XP_011530404.1:p.Pro409GlnfsTer5
XM_017008381.1:c.986del	XP_016863870.1:p.Pro329GlnfsTer5
XM_017008382.1:c.338del	XP_016863871.1:p.Pro113GlnfsTer5
NM_017593.4:c.1226del	NP_060063.2:p.Pro409GlnfsTer5
NM_017593.5:c.1226del	NP_060063.2:p.Pro409GlnfsTer5
NM_198892.2:c.1226del MANE Select	NP_942595.1:p.Pro409GlnfsTer5