Canonical Allele Identifier: CA2740545312

Gene: BMP2K PAQR3

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911397dup , CM000666.2:g.78911397dup	GRCh38
NC_000004.11:g.79832551dup , CM000666.1:g.79832551dup	GRCh37
NC_000004.10:g.80051575dup	NCBI36
NG_047162.1:g.140020dup
NG_053104.1:g.33042dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.2850dup (BMP2K) MANE Select	ENSP00000424668.2:p.Glu951Ter
ENST00000335016.9:c.2850dup (BMP2K)	ENSP00000334836.5:p.Glu951Ter
ENST00000342820.10:c.*782+3813dup (PAQR3)	ENSP00000344203.6:n.*782+3813dup
ENST00000502613.1:c.1927dup (BMP2K)
ENST00000511594.5:c.*792dup (PAQR3)	ENSP00000425080.1:n.*792dup
ENST00000512760.5:c.*792+3813dup (PAQR3)	ENSP00000426875.1:n.*792+3813dup
ENST00000628286.1:c.*1826dup (BMP2K)	ENSP00000487317.1:n.*1826dup
NM_198892.1:c.2850dup (BMP2K)	NP_942595.1:p.Glu951Ter
XM_005263117.1:c.2739dup (BMP2K)	XP_005263174.1:p.Glu914Ter
XM_011532101.1:c.2610dup (BMP2K)	XP_011530403.1:p.Glu871Ter
XR_938694.1:n.1118-5236dup (PAQR3)
XM_017008381.1:c.2610dup (BMP2K)	XP_016863870.1:p.Glu871Ter
XM_017008382.1:c.1962dup (BMP2K)	XP_016863871.1:p.Glu655Ter
XR_938694.3:n.1098-5236dup (PAQR3)
NM_198892.2:c.2850dup (BMP2K) MANE Select	NP_942595.1:p.Glu951Ter