Canonical Allele Identifier: CA440226288

Gene: BMP2K PAQR3

Linked Data

• dbSNP Id: rs2110111066
• MyVariant Identifiers: chr4:g.79832746A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911592A>T , CM000666.2:g.78911592A>T	GRCh38
NC_000004.11:g.79832746A>T , CM000666.1:g.79832746A>T	GRCh37
NC_000004.10:g.80051770A>T	NCBI36
NG_047162.1:g.140215A>T
NG_053104.1:g.32847T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.3045A>T (BMP2K) MANE Select	ENSP00000424668.2:p.Pro1015=
ENST00000335016.9:c.3045A>T (BMP2K)	ENSP00000334836.5:p.Pro1015=
ENST00000342820.10:c.*782+3618T>A (PAQR3)	ENSP00000344203.6:n.*782+3618T>A
ENST00000502613.1:c.2122A>T (BMP2K)
ENST00000511594.5:c.*597T>A (PAQR3)	ENSP00000425080.1:n.*597T>A
ENST00000512760.5:c.*792+3618T>A (PAQR3)	ENSP00000426875.1:n.*792+3618T>A
ENST00000628286.1:c.*2021A>T (BMP2K)	ENSP00000487317.1:n.*2021A>T
NM_198892.1:c.3045A>T (BMP2K)	NP_942595.1:p.Pro1015=
XM_005263117.1:c.2934A>T (BMP2K)	XP_005263174.1:p.Pro978=
XM_011532101.1:c.2805A>T (BMP2K)	XP_011530403.1:p.Pro935=
XR_938694.1:n.1118-5431T>A (PAQR3)
XM_017008381.1:c.2805A>T (BMP2K)	XP_016863870.1:p.Pro935=
XM_017008382.1:c.2157A>T (BMP2K)	XP_016863871.1:p.Pro719=
XR_938694.3:n.1098-5431T>A (PAQR3)
NM_198892.2:c.3045A>T (BMP2K) MANE Select	NP_942595.1:p.Pro1015=