Canonical Allele Identifier: CA1470756639

Gene: BMP2K PAQR3

Linked Data

• dbSNP Id: rs1734582471

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911306_78911309del , CM000666.2:g.78911306_78911309del	GRCh38
NC_000004.11:g.79832460_79832463del , CM000666.1:g.79832460_79832463del	GRCh37
NC_000004.10:g.80051484_80051487del	NCBI36
NG_047162.1:g.139929_139932del
NG_053104.1:g.33132_33135del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.2759_2762del (BMP2K) MANE Select	ENSP00000424668.2:p.His920LeufsTer9
ENST00000335016.9:c.2759_2762del (BMP2K)	ENSP00000334836.5:p.His920LeufsTer9
ENST00000342820.10:c.*782+3903_*782+3906del (PAQR3)	ENSP00000344203.6:n.*782+3903_*782+3906del
ENST00000502613.1:c.1836_1839del (BMP2K)
ENST00000511594.5:c.*882_*885del (PAQR3)	ENSP00000425080.1:n.*882_*885del
ENST00000512760.5:c.*792+3903_*792+3906del (PAQR3)	ENSP00000426875.1:n.*792+3903_*792+3906del
ENST00000628286.1:c.*1735_*1738del (BMP2K)	ENSP00000487317.1:n.*1735_*1738del
NM_198892.1:c.2759_2762del (BMP2K)	NP_942595.1:p.His920LeufsTer9
XM_005263117.1:c.2648_2651del (BMP2K)	XP_005263174.1:p.His883LeufsTer9
XM_011532101.1:c.2519_2522del (BMP2K)	XP_011530403.1:p.His840LeufsTer9
XR_938694.1:n.1118-5146_1118-5143del (PAQR3)
XM_017008381.1:c.2519_2522del (BMP2K)	XP_016863870.1:p.His840LeufsTer9
XM_017008382.1:c.1871_1874del (BMP2K)	XP_016863871.1:p.His624LeufsTer9
XR_938694.3:n.1098-5146_1098-5143del (PAQR3)
NM_198892.2:c.2759_2762del (BMP2K) MANE Select	NP_942595.1:p.His920LeufsTer9