Canonical Allele Identifier: CA2553523110

Gene: BMP2K

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78865719del , CM000666.2:g.78865719del	GRCh38
NC_000004.11:g.79786873del , CM000666.1:g.79786873del	GRCh37
NC_000004.10:g.80005897del	NCBI36
NG_047162.1:g.94342del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.1230del MANE Select	ENSP00000424668.2:p.Ala412HisfsTer2
ENST00000335016.9:c.1230del	ENSP00000334836.5:p.Ala412HisfsTer2
ENST00000389010.7:c.*206del	ENSP00000373662.3:n.*206del
ENST00000502613.1:c.307del
ENST00000502871.5:c.1230del	ENSP00000421768.1:p.Ala412HisfsTer2
ENST00000505725.1:n.512del
ENST00000628286.1:c.*206del	ENSP00000487317.1:n.*206del
NM_017593.3:c.1230del	NP_060063.2:p.Ala412HisfsTer2
NM_198892.1:c.1230del	NP_942595.1:p.Ala412HisfsTer2
XM_005263117.1:c.1230del	XP_005263174.1:p.Ala412HisfsTer2
XM_011532101.1:c.990del	XP_011530403.1:p.Ala332HisfsTer2
XM_011532102.1:c.1230del	XP_011530404.1:p.Ala412HisfsTer2
XM_017008381.1:c.990del	XP_016863870.1:p.Ala332HisfsTer2
XM_017008382.1:c.342del	XP_016863871.1:p.Ala116HisfsTer2
NM_017593.4:c.1230del	NP_060063.2:p.Ala412HisfsTer2
NM_017593.5:c.1230del	NP_060063.2:p.Ala412HisfsTer2
NM_198892.2:c.1230del MANE Select	NP_942595.1:p.Ala412HisfsTer2