Canonical Allele Identifier: CA2671157131

Gene: BMP2K

Linked Data

• gnomAD v4: 4-78865708-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78865709del , CM000666.2:g.78865709del	GRCh38
NC_000004.11:g.79786863del , CM000666.1:g.79786863del	GRCh37
NC_000004.10:g.80005887del	NCBI36
NG_047162.1:g.94332del

Transcript Alleles

HGVS	Amino-acid change
ENST00000502613.3:c.1220del MANE Select	ENSP00000424668.2:p.His407LeufsTer7
ENST00000335016.9:c.1220del	ENSP00000334836.5:p.His407LeufsTer7
ENST00000389010.7:c.*196del	ENSP00000373662.3:n.*196del
ENST00000502613.1:c.297del
ENST00000502871.5:c.1220del	ENSP00000421768.1:p.His407LeufsTer7
ENST00000505725.1:n.502del
ENST00000628286.1:c.*196del	ENSP00000487317.1:n.*196del
NM_017593.3:c.1220del	NP_060063.2:p.His407LeufsTer7
NM_198892.1:c.1220del	NP_942595.1:p.His407LeufsTer7
XM_005263117.1:c.1220del	XP_005263174.1:p.His407LeufsTer7
XM_011532101.1:c.980del	XP_011530403.1:p.His327LeufsTer7
XM_011532102.1:c.1220del	XP_011530404.1:p.His407LeufsTer7
XM_017008381.1:c.980del	XP_016863870.1:p.His327LeufsTer7
XM_017008382.1:c.332del	XP_016863871.1:p.His111LeufsTer7
NM_017593.4:c.1220del	NP_060063.2:p.His407LeufsTer7
NM_017593.5:c.1220del	NP_060063.2:p.His407LeufsTer7
NM_198892.2:c.1220del MANE Select	NP_942595.1:p.His407LeufsTer7