Canonical Allele Identifier: CA100003691

Gene: BMP2K PAQR3

Linked Data

• dbSNP Id: rs34406189
• MyVariant Identifiers: chr4:g.79832902del (hg19) ; chr4:g.78911748del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911751del , CM000666.2:g.78911751del	GRCh38
NC_000004.11:g.79832905del , CM000666.1:g.79832905del	GRCh37
NC_000004.10:g.80051929del	NCBI36
NG_047162.1:g.140374del
NG_053104.1:g.32691del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.3204del (BMP2K) MANE Select	ENSP00000424668.2:p.Phe1069SerfsTer20
ENST00000335016.9:c.3204del (BMP2K)	ENSP00000334836.5:p.Phe1069SerfsTer20
ENST00000342820.10:c.*782+3462del (PAQR3)	ENSP00000344203.6:n.*782+3462del
ENST00000502613.1:c.2281del (BMP2K)
ENST00000511594.5:c.*441del (PAQR3)	ENSP00000425080.1:n.*441del
ENST00000512760.5:c.*792+3462del (PAQR3)	ENSP00000426875.1:n.*792+3462del
ENST00000628286.1:c.*2180del (BMP2K)	ENSP00000487317.1:n.*2180del
NM_198892.1:c.3204del (BMP2K)	NP_942595.1:p.Phe1069SerfsTer20
XM_005263117.1:c.3093del (BMP2K)	XP_005263174.1:p.Phe1032SerfsTer20
XM_011532101.1:c.2964del (BMP2K)	XP_011530403.1:p.Phe989SerfsTer20
XR_938694.1:n.1118-5587del (PAQR3)
XM_017008381.1:c.2964del (BMP2K)	XP_016863870.1:p.Phe989SerfsTer20
XM_017008382.1:c.2316del (BMP2K)	XP_016863871.1:p.Phe773SerfsTer20
XR_938694.3:n.1098-5587del (PAQR3)
NM_198892.2:c.3204del (BMP2K) MANE Select	NP_942595.1:p.Phe1069SerfsTer20