Canonical Allele Identifier: CA2762313954

Gene: BMP2K

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78865716_78865717insCC , CM000666.2:g.78865716_78865717insCC	GRCh38
NC_000004.11:g.79786870_79786871insCC , CM000666.1:g.79786870_79786871insCC	GRCh37
NC_000004.10:g.80005894_80005895insCC	NCBI36
NG_047162.1:g.94339_94340insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.1227_1228insCC MANE Select	ENSP00000424668.2:p.Lys410ProfsTer5
ENST00000335016.9:c.1227_1228insCC	ENSP00000334836.5:p.Lys410ProfsTer5
ENST00000389010.7:c.*203_*204insCC	ENSP00000373662.3:n.*203_*204insCC
ENST00000502613.1:c.304_305insCC
ENST00000502871.5:c.1227_1228insCC	ENSP00000421768.1:p.Lys410ProfsTer5
ENST00000505725.1:n.509_510insCC
ENST00000628286.1:c.*203_*204insCC	ENSP00000487317.1:n.*203_*204insCC
NM_017593.3:c.1227_1228insCC	NP_060063.2:p.Lys410ProfsTer5
NM_198892.1:c.1227_1228insCC	NP_942595.1:p.Lys410ProfsTer5
XM_005263117.1:c.1227_1228insCC	XP_005263174.1:p.Lys410ProfsTer5
XM_011532101.1:c.987_988insCC	XP_011530403.1:p.Lys330ProfsTer5
XM_011532102.1:c.1227_1228insCC	XP_011530404.1:p.Lys410ProfsTer5
XM_017008381.1:c.987_988insCC	XP_016863870.1:p.Lys330ProfsTer5
XM_017008382.1:c.339_340insCC	XP_016863871.1:p.Lys114ProfsTer5
NM_017593.4:c.1227_1228insCC	NP_060063.2:p.Lys410ProfsTer5
NM_017593.5:c.1227_1228insCC	NP_060063.2:p.Lys410ProfsTer5
NM_198892.2:c.1227_1228insCC MANE Select	NP_942595.1:p.Lys410ProfsTer5