Canonical Allele Identifier: CA440226431

Gene: BMP2K PAQR3

Linked Data

• dbSNP Id: rs1734628584
• gnomAD v4: 4-78911766-C-T
• MyVariant Identifiers: chr4:g.79832920C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911766C>T , CM000666.2:g.78911766C>T	GRCh38
NC_000004.11:g.79832920C>T , CM000666.1:g.79832920C>T	GRCh37
NC_000004.10:g.80051944C>T	NCBI36
NG_047162.1:g.140389C>T
NG_053104.1:g.32673G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.3219C>T (BMP2K) MANE Select	ENSP00000424668.2:p.Pro1073=
ENST00000335016.9:c.3219C>T (BMP2K)	ENSP00000334836.5:p.Pro1073=
ENST00000342820.10:c.*782+3444G>A (PAQR3)	ENSP00000344203.6:n.*782+3444G>A
ENST00000502613.1:c.2296C>T (BMP2K)
ENST00000511594.5:c.*423G>A (PAQR3)	ENSP00000425080.1:n.*423G>A
ENST00000512760.5:c.*792+3444G>A (PAQR3)	ENSP00000426875.1:n.*792+3444G>A
ENST00000628286.1:c.*2195C>T (BMP2K)	ENSP00000487317.1:n.*2195C>T
NM_198892.1:c.3219C>T (BMP2K)	NP_942595.1:p.Pro1073=
XM_005263117.1:c.3108C>T (BMP2K)	XP_005263174.1:p.Pro1036=
XM_011532101.1:c.2979C>T (BMP2K)	XP_011530403.1:p.Pro993=
XR_938694.1:n.1118-5605G>A (PAQR3)
XM_017008381.1:c.2979C>T (BMP2K)	XP_016863870.1:p.Pro993=
XM_017008382.1:c.2331C>T (BMP2K)	XP_016863871.1:p.Pro777=
XR_938694.3:n.1098-5605G>A (PAQR3)
NM_198892.2:c.3219C>T (BMP2K) MANE Select	NP_942595.1:p.Pro1073=