Canonical Allele Identifier: CA357403395

Gene: BMP2K PAQR3

Linked Data

• gnomAD v4: 4-78911518-A-G
• MyVariant Identifiers: chr4:g.79832672A>G (hg19) ; chr4:g.78911518A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911518A>G , CM000666.2:g.78911518A>G	GRCh38
NC_000004.11:g.79832672A>G , CM000666.1:g.79832672A>G	GRCh37
NC_000004.10:g.80051696A>G	NCBI36
NG_047162.1:g.140141A>G
NG_053104.1:g.32921T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.2971A>G (BMP2K) MANE Select	ENSP00000424668.2:p.Lys991Glu
ENST00000335016.9:c.2971A>G (BMP2K)	ENSP00000334836.5:p.Lys991Glu
ENST00000342820.10:c.*782+3692T>C (PAQR3)	ENSP00000344203.6:n.*782+3692T>C
ENST00000502613.1:c.2048A>G (BMP2K)
ENST00000511594.5:c.*671T>C (PAQR3)	ENSP00000425080.1:n.*671T>C
ENST00000512760.5:c.*792+3692T>C (PAQR3)	ENSP00000426875.1:n.*792+3692T>C
ENST00000628286.1:c.*1947A>G (BMP2K)	ENSP00000487317.1:n.*1947A>G
NM_198892.1:c.2971A>G (BMP2K)	NP_942595.1:p.Lys991Glu
XM_005263117.1:c.2860A>G (BMP2K)	XP_005263174.1:p.Lys954Glu
XM_011532101.1:c.2731A>G (BMP2K)	XP_011530403.1:p.Lys911Glu
XR_938694.1:n.1118-5357T>C (PAQR3)
XM_017008381.1:c.2731A>G (BMP2K)	XP_016863870.1:p.Lys911Glu
XM_017008382.1:c.2083A>G (BMP2K)	XP_016863871.1:p.Lys695Glu
XR_938694.3:n.1098-5357T>C (PAQR3)
NM_198892.2:c.2971A>G (BMP2K) MANE Select	NP_942595.1:p.Lys991Glu