Canonical Allele Identifier: CA357404141

Gene: BMP2K PAQR3

Linked Data

• dbSNP Id: rs767882432
• gnomAD v2: 4-79832764-C-G
• gnomAD v4: 4-78911610-C-G
• MyVariant Identifiers: chr4:g.79832764C>G (hg19) ; chr4:g.78911610C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911610C>G , CM000666.2:g.78911610C>G	GRCh38
NC_000004.11:g.79832764C>G , CM000666.1:g.79832764C>G	GRCh37
NC_000004.10:g.80051788C>G	NCBI36
NG_047162.1:g.140233C>G
NG_053104.1:g.32829G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.3063C>G (BMP2K) MANE Select	ENSP00000424668.2:p.His1021Gln
ENST00000335016.9:c.3063C>G (BMP2K)	ENSP00000334836.5:p.His1021Gln
ENST00000342820.10:c.*782+3600G>C (PAQR3)	ENSP00000344203.6:n.*782+3600G>C
ENST00000502613.1:c.2140C>G (BMP2K)
ENST00000511594.5:c.*579G>C (PAQR3)	ENSP00000425080.1:n.*579G>C
ENST00000512760.5:c.*792+3600G>C (PAQR3)	ENSP00000426875.1:n.*792+3600G>C
ENST00000628286.1:c.*2039C>G (BMP2K)	ENSP00000487317.1:n.*2039C>G
NM_198892.1:c.3063C>G (BMP2K)	NP_942595.1:p.His1021Gln
XM_005263117.1:c.2952C>G (BMP2K)	XP_005263174.1:p.His984Gln
XM_011532101.1:c.2823C>G (BMP2K)	XP_011530403.1:p.His941Gln
XR_938694.1:n.1118-5449G>C (PAQR3)
XM_017008381.1:c.2823C>G (BMP2K)	XP_016863870.1:p.His941Gln
XM_017008382.1:c.2175C>G (BMP2K)	XP_016863871.1:p.His725Gln
XR_938694.3:n.1098-5449G>C (PAQR3)
NM_198892.2:c.3063C>G (BMP2K) MANE Select	NP_942595.1:p.His1021Gln