Canonical Allele Identifier: CA1470756830

Gene: BMP2K PAQR3

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911743T= , CM000666.2:g.78911743T=	GRCh38
NC_000004.11:g.79832897T= , CM000666.1:g.79832897T=	GRCh37
NC_000004.10:g.80051921T=	NCBI36
NG_047162.1:g.140366T=
NG_053104.1:g.32696A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.3196T= (BMP2K) MANE Select	ENSP00000424668.2:p.Leu1066=
ENST00000335016.9:c.3196T= (BMP2K)	ENSP00000334836.5:p.Leu1066=
ENST00000342820.10:c.*782+3467A= (PAQR3)	ENSP00000344203.6:n.*782+3467A=
ENST00000502613.1:c.2273T= (BMP2K)
ENST00000511594.5:c.*446A= (PAQR3)	ENSP00000425080.1:n.*446A=
ENST00000512760.5:c.*792+3467A= (PAQR3)	ENSP00000426875.1:n.*792+3467A=
ENST00000628286.1:c.*2172T= (BMP2K)	ENSP00000487317.1:n.*2172T=
NM_198892.1:c.3196T= (BMP2K)	NP_942595.1:p.Leu1066=
XM_005263117.1:c.3085T= (BMP2K)	XP_005263174.1:p.Leu1029=
XM_011532101.1:c.2956T= (BMP2K)	XP_011530403.1:p.Leu986=
XR_938694.1:n.1118-5582A= (PAQR3)
XM_017008381.1:c.2956T= (BMP2K)	XP_016863870.1:p.Leu986=
XM_017008382.1:c.2308T= (BMP2K)	XP_016863871.1:p.Leu770=
XR_938694.3:n.1098-5582A= (PAQR3)
NM_198892.2:c.3196T= (BMP2K) MANE Select	NP_942595.1:p.Leu1066=