Canonical Allele Identifier: CA357404774

Gene: BMP2K PAQR3

Linked Data

• MyVariant Identifiers: chr4:g.79832937T>G (hg19) ; chr4:g.78911783T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911783T>G , CM000666.2:g.78911783T>G	GRCh38
NC_000004.11:g.79832937T>G , CM000666.1:g.79832937T>G	GRCh37
NC_000004.10:g.80051961T>G	NCBI36
NG_047162.1:g.140406T>G
NG_053104.1:g.32656A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.3236T>G (BMP2K) MANE Select	ENSP00000424668.2:p.Leu1079Arg
ENST00000335016.9:c.3236T>G (BMP2K)	ENSP00000334836.5:p.Leu1079Arg
ENST00000342820.10:c.*782+3427A>C (PAQR3)	ENSP00000344203.6:n.*782+3427A>C
ENST00000502613.1:c.2313T>G (BMP2K)
ENST00000511594.5:c.*406A>C (PAQR3)	ENSP00000425080.1:n.*406A>C
ENST00000512760.5:c.*792+3427A>C (PAQR3)	ENSP00000426875.1:n.*792+3427A>C
ENST00000628286.1:c.*2212T>G (BMP2K)	ENSP00000487317.1:n.*2212T>G
NM_198892.1:c.3236T>G (BMP2K)	NP_942595.1:p.Leu1079Arg
XM_005263117.1:c.3125T>G (BMP2K)	XP_005263174.1:p.Leu1042Arg
XM_011532101.1:c.2996T>G (BMP2K)	XP_011530403.1:p.Leu999Arg
XR_938694.1:n.1118-5622A>C (PAQR3)
XM_017008381.1:c.2996T>G (BMP2K)	XP_016863870.1:p.Leu999Arg
XM_017008382.1:c.2348T>G (BMP2K)	XP_016863871.1:p.Leu783Arg
XR_938694.3:n.1098-5622A>C (PAQR3)
NM_198892.2:c.3236T>G (BMP2K) MANE Select	NP_942595.1:p.Leu1079Arg