Canonical Allele Identifier: CA2762313955

Gene: BMP2K

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78865718_78865719insCACACCCAACAC , CM000666.2:g.78865718_78865719insCACACCCAACAC	GRCh38
NC_000004.11:g.79786872_79786873insCACACCCAACAC , CM000666.1:g.79786872_79786873insCACACCCAACAC	GRCh37
NC_000004.10:g.80005896_80005897insCACACCCAACAC	NCBI36
NG_047162.1:g.94341_94342insCACACCCAACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.1229_1230insCACACCCAACAC MANE Select	ENSP00000424668.2:p.Lys410delinsAsnThrProAsnThr
ENST00000335016.9:c.1229_1230insCACACCCAACAC	ENSP00000334836.5:p.Lys410delinsAsnThrProAsnThr
ENST00000389010.7:c.*205_*206insCACACCCAACAC	ENSP00000373662.3:n.*205_*206insCACACCCAACAC
ENST00000502613.1:c.306_307insCACACCCAACAC
ENST00000502871.5:c.1229_1230insCACACCCAACAC	ENSP00000421768.1:p.Lys410delinsAsnThrProAsnThr
ENST00000505725.1:n.511_512insCACACCCAACAC
ENST00000628286.1:c.*205_*206insCACACCCAACAC	ENSP00000487317.1:n.*205_*206insCACACCCAACAC
NM_017593.3:c.1229_1230insCACACCCAACAC	NP_060063.2:p.Lys410delinsAsnThrProAsnThr
NM_198892.1:c.1229_1230insCACACCCAACAC	NP_942595.1:p.Lys410delinsAsnThrProAsnThr
XM_005263117.1:c.1229_1230insCACACCCAACAC	XP_005263174.1:p.Lys410delinsAsnThrProAsnThr
XM_011532101.1:c.989_990insCACACCCAACAC	XP_011530403.1:p.Lys330delinsAsnThrProAsnThr
XM_011532102.1:c.1229_1230insCACACCCAACAC	XP_011530404.1:p.Lys410delinsAsnThrProAsnThr
XM_017008381.1:c.989_990insCACACCCAACAC	XP_016863870.1:p.Lys330delinsAsnThrProAsnThr
XM_017008382.1:c.341_342insCACACCCAACAC	XP_016863871.1:p.Lys114delinsAsnThrProAsnThr
NM_017593.4:c.1229_1230insCACACCCAACAC	NP_060063.2:p.Lys410delinsAsnThrProAsnThr
NM_017593.5:c.1229_1230insCACACCCAACAC	NP_060063.2:p.Lys410delinsAsnThrProAsnThr
NM_198892.2:c.1229_1230insCACACCCAACAC MANE Select	NP_942595.1:p.Lys410delinsAsnThrProAsnThr