Canonical Allele Identifier: CA2671159114

Gene: BMP2K PAQR3

Linked Data

• gnomAD v4: 4-78911864-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911866dup , CM000666.2:g.78911866dup	GRCh38
NC_000004.11:g.79833020dup , CM000666.1:g.79833020dup	GRCh37
NC_000004.10:g.80052044dup	NCBI36
NG_047162.1:g.140489dup
NG_053104.1:g.32574dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.3319dup (BMP2K) MANE Select	ENSP00000424668.2:p.Ser1107PhefsTer8
ENST00000335016.9:c.3319dup (BMP2K)	ENSP00000334836.5:p.Ser1107PhefsTer8
ENST00000342820.10:c.*782+3345dup (PAQR3)	ENSP00000344203.6:n.*782+3345dup
ENST00000502613.1:c.2396dup (BMP2K)
ENST00000511594.5:c.*324dup (PAQR3)	ENSP00000425080.1:n.*324dup
ENST00000512760.5:c.*792+3345dup (PAQR3)	ENSP00000426875.1:n.*792+3345dup
ENST00000628286.1:c.*2295dup (BMP2K)	ENSP00000487317.1:n.*2295dup
NM_198892.1:c.3319dup (BMP2K)	NP_942595.1:p.Ser1107PhefsTer8
XM_005263117.1:c.3208dup (BMP2K)	XP_005263174.1:p.Ser1070PhefsTer8
XM_011532101.1:c.3079dup (BMP2K)	XP_011530403.1:p.Ser1027PhefsTer8
XR_938694.1:n.1118-5704dup (PAQR3)
XM_017008381.1:c.3079dup (BMP2K)	XP_016863870.1:p.Ser1027PhefsTer8
XM_017008382.1:c.2431dup (BMP2K)	XP_016863871.1:p.Ser811PhefsTer8
XR_938694.3:n.1098-5704dup (PAQR3)
NM_198892.2:c.3319dup (BMP2K) MANE Select	NP_942595.1:p.Ser1107PhefsTer8