Canonical Allele Identifier: CA440226384

Gene: BMP2K PAQR3

Linked Data

• dbSNP Id: rs1383444973
• gnomAD v3: 4-78911740-C-T
• gnomAD v4: 4-78911740-C-T
• MyVariant Identifiers: chr4:g.79832894C>T (hg19) ; chr4:g.78911740C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911740C>T , CM000666.2:g.78911740C>T	GRCh38
NC_000004.11:g.79832894C>T , CM000666.1:g.79832894C>T	GRCh37
NC_000004.10:g.80051918C>T	NCBI36
NG_047162.1:g.140363C>T
NG_053104.1:g.32699G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.3193C>T (BMP2K) MANE Select	ENSP00000424668.2:p.Leu1065=
ENST00000335016.9:c.3193C>T (BMP2K)	ENSP00000334836.5:p.Leu1065=
ENST00000342820.10:c.*782+3470G>A (PAQR3)	ENSP00000344203.6:n.*782+3470G>A
ENST00000502613.1:c.2270C>T (BMP2K)
ENST00000511594.5:c.*449G>A (PAQR3)	ENSP00000425080.1:n.*449G>A
ENST00000512760.5:c.*792+3470G>A (PAQR3)	ENSP00000426875.1:n.*792+3470G>A
ENST00000628286.1:c.*2169C>T (BMP2K)	ENSP00000487317.1:n.*2169C>T
NM_198892.1:c.3193C>T (BMP2K)	NP_942595.1:p.Leu1065=
XM_005263117.1:c.3082C>T (BMP2K)	XP_005263174.1:p.Leu1028=
XM_011532101.1:c.2953C>T (BMP2K)	XP_011530403.1:p.Leu985=
XR_938694.1:n.1118-5579G>A (PAQR3)
XM_017008381.1:c.2953C>T (BMP2K)	XP_016863870.1:p.Leu985=
XM_017008382.1:c.2305C>T (BMP2K)	XP_016863871.1:p.Leu769=
XR_938694.3:n.1098-5579G>A (PAQR3)
NM_198892.2:c.3193C>T (BMP2K) MANE Select	NP_942595.1:p.Leu1065=