Canonical Allele Identifier: CA357402278

Gene: BMP2K PAQR3

Linked Data

• gnomAD v4: 4-78911367-C-A
• MyVariant Identifiers: chr4:g.79832521C>A (hg19) ; chr4:g.78911367C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911367C>A , CM000666.2:g.78911367C>A	GRCh38
NC_000004.11:g.79832521C>A , CM000666.1:g.79832521C>A	GRCh37
NC_000004.10:g.80051545C>A	NCBI36
NG_047162.1:g.139990C>A
NG_053104.1:g.33072G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.2820C>A (BMP2K) MANE Select	ENSP00000424668.2:p.Phe940Leu
ENST00000335016.9:c.2820C>A (BMP2K)	ENSP00000334836.5:p.Phe940Leu
ENST00000342820.10:c.*782+3843G>T (PAQR3)	ENSP00000344203.6:n.*782+3843G>T
ENST00000502613.1:c.1897C>A (BMP2K)
ENST00000511594.5:c.*822G>T (PAQR3)	ENSP00000425080.1:n.*822G>T
ENST00000512760.5:c.*792+3843G>T (PAQR3)	ENSP00000426875.1:n.*792+3843G>T
ENST00000628286.1:c.*1796C>A (BMP2K)	ENSP00000487317.1:n.*1796C>A
NM_198892.1:c.2820C>A (BMP2K)	NP_942595.1:p.Phe940Leu
XM_005263117.1:c.2709C>A (BMP2K)	XP_005263174.1:p.Phe903Leu
XM_011532101.1:c.2580C>A (BMP2K)	XP_011530403.1:p.Phe860Leu
XR_938694.1:n.1118-5206G>T (PAQR3)
XM_017008381.1:c.2580C>A (BMP2K)	XP_016863870.1:p.Phe860Leu
XM_017008382.1:c.1932C>A (BMP2K)	XP_016863871.1:p.Phe644Leu
XR_938694.3:n.1098-5206G>T (PAQR3)
NM_198892.2:c.2820C>A (BMP2K) MANE Select	NP_942595.1:p.Phe940Leu