Canonical Allele Identifier: CA357402205

Gene: BMP2K PAQR3

Linked Data

• dbSNP Id: rs1349411390
• MyVariant Identifiers: chr4:g.79832508C>A (hg19) ; chr4:g.78911354C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911354C>A , CM000666.2:g.78911354C>A	GRCh38
NC_000004.11:g.79832508C>A , CM000666.1:g.79832508C>A	GRCh37
NC_000004.10:g.80051532C>A	NCBI36
NG_047162.1:g.139977C>A
NG_053104.1:g.33085G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.2807C>A (BMP2K) MANE Select	ENSP00000424668.2:p.Pro936Gln
ENST00000335016.9:c.2807C>A (BMP2K)	ENSP00000334836.5:p.Pro936Gln
ENST00000342820.10:c.*782+3856G>T (PAQR3)	ENSP00000344203.6:n.*782+3856G>T
ENST00000502613.1:c.1884C>A (BMP2K)
ENST00000511594.5:c.*835G>T (PAQR3)	ENSP00000425080.1:n.*835G>T
ENST00000512760.5:c.*792+3856G>T (PAQR3)	ENSP00000426875.1:n.*792+3856G>T
ENST00000628286.1:c.*1783C>A (BMP2K)	ENSP00000487317.1:n.*1783C>A
NM_198892.1:c.2807C>A (BMP2K)	NP_942595.1:p.Pro936Gln
XM_005263117.1:c.2696C>A (BMP2K)	XP_005263174.1:p.Pro899Gln
XM_011532101.1:c.2567C>A (BMP2K)	XP_011530403.1:p.Pro856Gln
XR_938694.1:n.1118-5193G>T (PAQR3)
XM_017008381.1:c.2567C>A (BMP2K)	XP_016863870.1:p.Pro856Gln
XM_017008382.1:c.1919C>A (BMP2K)	XP_016863871.1:p.Pro640Gln
XR_938694.3:n.1098-5193G>T (PAQR3)
NM_198892.2:c.2807C>A (BMP2K) MANE Select	NP_942595.1:p.Pro936Gln