Canonical Allele Identifier: CA2671159113

Gene: BMP2K PAQR3

Linked Data

• gnomAD v4: 4-78911802-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911803del , CM000666.2:g.78911803del	GRCh38
NC_000004.11:g.79832957del , CM000666.1:g.79832957del	GRCh37
NC_000004.10:g.80051981del	NCBI36
NG_047162.1:g.140426del
NG_053104.1:g.32636del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.3256del (BMP2K) MANE Select	ENSP00000424668.2:p.Gln1086ArgfsTer3
ENST00000335016.9:c.3256del (BMP2K)	ENSP00000334836.5:p.Gln1086ArgfsTer3
ENST00000342820.10:c.*782+3407del (PAQR3)	ENSP00000344203.6:n.*782+3407del
ENST00000502613.1:c.2333del (BMP2K)
ENST00000511594.5:c.*386del (PAQR3)	ENSP00000425080.1:n.*386del
ENST00000512760.5:c.*792+3407del (PAQR3)	ENSP00000426875.1:n.*792+3407del
ENST00000628286.1:c.*2232del (BMP2K)	ENSP00000487317.1:n.*2232del
NM_198892.1:c.3256del (BMP2K)	NP_942595.1:p.Gln1086ArgfsTer3
XM_005263117.1:c.3145del (BMP2K)	XP_005263174.1:p.Gln1049ArgfsTer3
XM_011532101.1:c.3016del (BMP2K)	XP_011530403.1:p.Gln1006ArgfsTer3
XR_938694.1:n.1118-5642del (PAQR3)
XM_017008381.1:c.3016del (BMP2K)	XP_016863870.1:p.Gln1006ArgfsTer3
XM_017008382.1:c.2368del (BMP2K)	XP_016863871.1:p.Gln790ArgfsTer3
XR_938694.3:n.1098-5642del (PAQR3)
NM_198892.2:c.3256del (BMP2K) MANE Select	NP_942595.1:p.Gln1086ArgfsTer3