Canonical Allele Identifier: CA2980706

Gene: BMP2K PAQR3

Linked Data

• dbSNP Id: rs752726734
• ExAC: 4:79832890 G / A
• gnomAD v2: 4-79832890-G-A
• gnomAD v4: 4-78911736-G-A
• MyVariant Identifiers: chr4:g.79832890G>A (hg19) ; chr4:g.78911736G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911736G>A , CM000666.2:g.78911736G>A	GRCh38
NC_000004.11:g.79832890G>A , CM000666.1:g.79832890G>A	GRCh37
NC_000004.10:g.80051914G>A	NCBI36
NG_047162.1:g.140359G>A
NG_053104.1:g.32703C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.3189G>A (BMP2K) MANE Select	ENSP00000424668.2:p.Glu1063=
ENST00000335016.9:c.3189G>A (BMP2K)	ENSP00000334836.5:p.Glu1063=
ENST00000342820.10:c.*782+3474C>T (PAQR3)	ENSP00000344203.6:n.*782+3474C>T
ENST00000502613.1:c.2266G>A (BMP2K)
ENST00000511594.5:c.*453C>T (PAQR3)	ENSP00000425080.1:n.*453C>T
ENST00000512760.5:c.*792+3474C>T (PAQR3)	ENSP00000426875.1:n.*792+3474C>T
ENST00000628286.1:c.*2165G>A (BMP2K)	ENSP00000487317.1:n.*2165G>A
NM_198892.1:c.3189G>A (BMP2K)	NP_942595.1:p.Glu1063=
XM_005263117.1:c.3078G>A (BMP2K)	XP_005263174.1:p.Glu1026=
XM_011532101.1:c.2949G>A (BMP2K)	XP_011530403.1:p.Glu983=
XR_938694.1:n.1118-5575C>T (PAQR3)
XM_017008381.1:c.2949G>A (BMP2K)	XP_016863870.1:p.Glu983=
XM_017008382.1:c.2301G>A (BMP2K)	XP_016863871.1:p.Glu767=
XR_938694.3:n.1098-5575C>T (PAQR3)
NM_198892.2:c.3189G>A (BMP2K) MANE Select	NP_942595.1:p.Glu1063=