Canonical Allele Identifier: CA1470756707

Gene: BMP2K PAQR3

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911457C= , CM000666.2:g.78911457C=	GRCh38
NC_000004.11:g.79832611C= , CM000666.1:g.79832611C=	GRCh37
NC_000004.10:g.80051635C=	NCBI36
NG_047162.1:g.140080C=
NG_053104.1:g.32982G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.2910C= (BMP2K) MANE Select	ENSP00000424668.2:p.Val970=
ENST00000335016.9:c.2910C= (BMP2K)	ENSP00000334836.5:p.Val970=
ENST00000342820.10:c.*782+3753G= (PAQR3)	ENSP00000344203.6:n.*782+3753G=
ENST00000502613.1:c.1987C= (BMP2K)
ENST00000511594.5:c.*732G= (PAQR3)	ENSP00000425080.1:n.*732G=
ENST00000512760.5:c.*792+3753G= (PAQR3)	ENSP00000426875.1:n.*792+3753G=
ENST00000628286.1:c.*1886C= (BMP2K)	ENSP00000487317.1:n.*1886C=
NM_198892.1:c.2910C= (BMP2K)	NP_942595.1:p.Val970=
XM_005263117.1:c.2799C= (BMP2K)	XP_005263174.1:p.Val933=
XM_011532101.1:c.2670C= (BMP2K)	XP_011530403.1:p.Val890=
XR_938694.1:n.1118-5296G= (PAQR3)
XM_017008381.1:c.2670C= (BMP2K)	XP_016863870.1:p.Val890=
XM_017008382.1:c.2022C= (BMP2K)	XP_016863871.1:p.Val674=
XR_938694.3:n.1098-5296G= (PAQR3)
NM_198892.2:c.2910C= (BMP2K) MANE Select	NP_942595.1:p.Val970=