Canonical Allele Identifier: CA357403199

Gene: BMP2K PAQR3

Linked Data

• dbSNP Id: rs1240599340
• gnomAD v3: 4-78911486-C-A
• gnomAD v4: 4-78911486-C-A
• MyVariant Identifiers: chr4:g.79832640C>A (hg19) ; chr4:g.78911486C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911486C>A , CM000666.2:g.78911486C>A	GRCh38
NC_000004.11:g.79832640C>A , CM000666.1:g.79832640C>A	GRCh37
NC_000004.10:g.80051664C>A	NCBI36
NG_047162.1:g.140109C>A
NG_053104.1:g.32953G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.2939C>A (BMP2K) MANE Select	ENSP00000424668.2:p.Ser980Tyr
ENST00000335016.9:c.2939C>A (BMP2K)	ENSP00000334836.5:p.Ser980Tyr
ENST00000342820.10:c.*782+3724G>T (PAQR3)	ENSP00000344203.6:n.*782+3724G>T
ENST00000502613.1:c.2016C>A (BMP2K)
ENST00000511594.5:c.*703G>T (PAQR3)	ENSP00000425080.1:n.*703G>T
ENST00000512760.5:c.*792+3724G>T (PAQR3)	ENSP00000426875.1:n.*792+3724G>T
ENST00000628286.1:c.*1915C>A (BMP2K)	ENSP00000487317.1:n.*1915C>A
NM_198892.1:c.2939C>A (BMP2K)	NP_942595.1:p.Ser980Tyr
XM_005263117.1:c.2828C>A (BMP2K)	XP_005263174.1:p.Ser943Tyr
XM_011532101.1:c.2699C>A (BMP2K)	XP_011530403.1:p.Ser900Tyr
XR_938694.1:n.1118-5325G>T (PAQR3)
XM_017008381.1:c.2699C>A (BMP2K)	XP_016863870.1:p.Ser900Tyr
XM_017008382.1:c.2051C>A (BMP2K)	XP_016863871.1:p.Ser684Tyr
XR_938694.3:n.1098-5325G>T (PAQR3)
NM_198892.2:c.2939C>A (BMP2K) MANE Select	NP_942595.1:p.Ser980Tyr