Canonical Allele Identifier: CA2671159105

Gene: BMP2K PAQR3

Linked Data

• gnomAD v4: 4-78911526-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911529dup , CM000666.2:g.78911529dup	GRCh38
NC_000004.11:g.79832683dup , CM000666.1:g.79832683dup	GRCh37
NC_000004.10:g.80051707dup	NCBI36
NG_047162.1:g.140152dup
NG_053104.1:g.32912dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.2982dup (BMP2K) MANE Select	ENSP00000424668.2:p.Lys995GlufsTer9
ENST00000335016.9:c.2982dup (BMP2K)	ENSP00000334836.5:p.Lys995GlufsTer9
ENST00000342820.10:c.*782+3683dup (PAQR3)	ENSP00000344203.6:n.*782+3683dup
ENST00000502613.1:c.2059dup (BMP2K)
ENST00000511594.5:c.*662dup (PAQR3)	ENSP00000425080.1:n.*662dup
ENST00000512760.5:c.*792+3683dup (PAQR3)	ENSP00000426875.1:n.*792+3683dup
ENST00000628286.1:c.*1958dup (BMP2K)	ENSP00000487317.1:n.*1958dup
NM_198892.1:c.2982dup (BMP2K)	NP_942595.1:p.Lys995GlufsTer9
XM_005263117.1:c.2871dup (BMP2K)	XP_005263174.1:p.Lys958GlufsTer9
XM_011532101.1:c.2742dup (BMP2K)	XP_011530403.1:p.Lys915GlufsTer9
XR_938694.1:n.1118-5366dup (PAQR3)
XM_017008381.1:c.2742dup (BMP2K)	XP_016863870.1:p.Lys915GlufsTer9
XM_017008382.1:c.2094dup (BMP2K)	XP_016863871.1:p.Lys699GlufsTer9
XR_938694.3:n.1098-5366dup (PAQR3)
NM_198892.2:c.2982dup (BMP2K) MANE Select	NP_942595.1:p.Lys995GlufsTer9