Canonical Allele Identifier: CA357403392

Gene: BMP2K PAQR3

Linked Data

• dbSNP Id: rs370087986
• gnomAD v3: 4-78911516-C-A
• gnomAD v4: 4-78911516-C-A
• MyVariant Identifiers: chr4:g.79832670C>A (hg19) ; chr4:g.78911516C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911516C>A , CM000666.2:g.78911516C>A	GRCh38
NC_000004.11:g.79832670C>A , CM000666.1:g.79832670C>A	GRCh37
NC_000004.10:g.80051694C>A	NCBI36
NG_047162.1:g.140139C>A
NG_053104.1:g.32923G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.2969C>A (BMP2K) MANE Select	ENSP00000424668.2:p.Ser990Tyr
ENST00000335016.9:c.2969C>A (BMP2K)	ENSP00000334836.5:p.Ser990Tyr
ENST00000342820.10:c.*782+3694G>T (PAQR3)	ENSP00000344203.6:n.*782+3694G>T
ENST00000502613.1:c.2046C>A (BMP2K)
ENST00000511594.5:c.*673G>T (PAQR3)	ENSP00000425080.1:n.*673G>T
ENST00000512760.5:c.*792+3694G>T (PAQR3)	ENSP00000426875.1:n.*792+3694G>T
ENST00000628286.1:c.*1945C>A (BMP2K)	ENSP00000487317.1:n.*1945C>A
NM_198892.1:c.2969C>A (BMP2K)	NP_942595.1:p.Ser990Tyr
XM_005263117.1:c.2858C>A (BMP2K)	XP_005263174.1:p.Ser953Tyr
XM_011532101.1:c.2729C>A (BMP2K)	XP_011530403.1:p.Ser910Tyr
XR_938694.1:n.1118-5355G>T (PAQR3)
XM_017008381.1:c.2729C>A (BMP2K)	XP_016863870.1:p.Ser910Tyr
XM_017008382.1:c.2081C>A (BMP2K)	XP_016863871.1:p.Ser694Tyr
XR_938694.3:n.1098-5355G>T (PAQR3)
NM_198892.2:c.2969C>A (BMP2K) MANE Select	NP_942595.1:p.Ser990Tyr