Canonical Allele Identifier: CA2980646

Gene: BMP2K PAQR3

Linked Data

• dbSNP Id: rs781716389
• ExAC: 4:79832599 G / A
• gnomAD v2: 4-79832599-G-A
• gnomAD v4: 4-78911445-G-A
• MyVariant Identifiers: chr4:g.79832599G>A (hg19) ; chr4:g.78911445G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911445G>A , CM000666.2:g.78911445G>A	GRCh38
NC_000004.11:g.79832599G>A , CM000666.1:g.79832599G>A	GRCh37
NC_000004.10:g.80051623G>A	NCBI36
NG_047162.1:g.140068G>A
NG_053104.1:g.32994C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.2898G>A (BMP2K) MANE Select	ENSP00000424668.2:p.Gln966=
ENST00000335016.9:c.2898G>A (BMP2K)	ENSP00000334836.5:p.Gln966=
ENST00000342820.10:c.*782+3765C>T (PAQR3)	ENSP00000344203.6:n.*782+3765C>T
ENST00000502613.1:c.1975G>A (BMP2K)
ENST00000511594.5:c.*744C>T (PAQR3)	ENSP00000425080.1:n.*744C>T
ENST00000512760.5:c.*792+3765C>T (PAQR3)	ENSP00000426875.1:n.*792+3765C>T
ENST00000628286.1:c.*1874G>A (BMP2K)	ENSP00000487317.1:n.*1874G>A
NM_198892.1:c.2898G>A (BMP2K)	NP_942595.1:p.Gln966=
XM_005263117.1:c.2787G>A (BMP2K)	XP_005263174.1:p.Gln929=
XM_011532101.1:c.2658G>A (BMP2K)	XP_011530403.1:p.Gln886=
XR_938694.1:n.1118-5284C>T (PAQR3)
XM_017008381.1:c.2658G>A (BMP2K)	XP_016863870.1:p.Gln886=
XM_017008382.1:c.2010G>A (BMP2K)	XP_016863871.1:p.Gln670=
XR_938694.3:n.1098-5284C>T (PAQR3)
NM_198892.2:c.2898G>A (BMP2K) MANE Select	NP_942595.1:p.Gln966=