Canonical Allele Identifier: CA1470756669

Gene: BMP2K PAQR3

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911368C= , CM000666.2:g.78911368C=	GRCh38
NC_000004.11:g.79832522C= , CM000666.1:g.79832522C=	GRCh37
NC_000004.10:g.80051546C=	NCBI36
NG_047162.1:g.139991C=
NG_053104.1:g.33071G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.2821C= (BMP2K) MANE Select	ENSP00000424668.2:p.Leu941=
ENST00000335016.9:c.2821C= (BMP2K)	ENSP00000334836.5:p.Leu941=
ENST00000342820.10:c.*782+3842G= (PAQR3)	ENSP00000344203.6:n.*782+3842G=
ENST00000502613.1:c.1898C= (BMP2K)
ENST00000511594.5:c.*821G= (PAQR3)	ENSP00000425080.1:n.*821G=
ENST00000512760.5:c.*792+3842G= (PAQR3)	ENSP00000426875.1:n.*792+3842G=
ENST00000628286.1:c.*1797C= (BMP2K)	ENSP00000487317.1:n.*1797C=
NM_198892.1:c.2821C= (BMP2K)	NP_942595.1:p.Leu941=
XM_005263117.1:c.2710C= (BMP2K)	XP_005263174.1:p.Leu904=
XM_011532101.1:c.2581C= (BMP2K)	XP_011530403.1:p.Leu861=
XR_938694.1:n.1118-5207G= (PAQR3)
XM_017008381.1:c.2581C= (BMP2K)	XP_016863870.1:p.Leu861=
XM_017008382.1:c.1933C= (BMP2K)	XP_016863871.1:p.Leu645=
XR_938694.3:n.1098-5207G= (PAQR3)
NM_198892.2:c.2821C= (BMP2K) MANE Select	NP_942595.1:p.Leu941=