Canonical Allele Identifier: CA1470756652

Gene: BMP2K PAQR3

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911332G= , CM000666.2:g.78911332G=	GRCh38
NC_000004.11:g.79832486G= , CM000666.1:g.79832486G=	GRCh37
NC_000004.10:g.80051510G=	NCBI36
NG_047162.1:g.139955G=
NG_053104.1:g.33107C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.2785G= (BMP2K) MANE Select	ENSP00000424668.2:p.Val929=
ENST00000335016.9:c.2785G= (BMP2K)	ENSP00000334836.5:p.Val929=
ENST00000342820.10:c.*782+3878C= (PAQR3)	ENSP00000344203.6:n.*782+3878C=
ENST00000502613.1:c.1862G= (BMP2K)
ENST00000511594.5:c.*857C= (PAQR3)	ENSP00000425080.1:n.*857C=
ENST00000512760.5:c.*792+3878C= (PAQR3)	ENSP00000426875.1:n.*792+3878C=
ENST00000628286.1:c.*1761G= (BMP2K)	ENSP00000487317.1:n.*1761G=
NM_198892.1:c.2785G= (BMP2K)	NP_942595.1:p.Val929=
XM_005263117.1:c.2674G= (BMP2K)	XP_005263174.1:p.Val892=
XM_011532101.1:c.2545G= (BMP2K)	XP_011530403.1:p.Val849=
XR_938694.1:n.1118-5171C= (PAQR3)
XM_017008381.1:c.2545G= (BMP2K)	XP_016863870.1:p.Val849=
XM_017008382.1:c.1897G= (BMP2K)	XP_016863871.1:p.Val633=
XR_938694.3:n.1098-5171C= (PAQR3)
NM_198892.2:c.2785G= (BMP2K) MANE Select	NP_942595.1:p.Val929=