Canonical Allele Identifier: CA440226478

Gene: BMP2K PAQR3

Linked Data

• dbSNP Id: rs1301065641
• gnomAD v2: 4-79832962-C-G
• gnomAD v4: 4-78911808-C-G
• MyVariant Identifiers: chr4:g.79832962C>G (hg19) ; chr4:g.78911808C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911808C>G , CM000666.2:g.78911808C>G	GRCh38
NC_000004.11:g.79832962C>G , CM000666.1:g.79832962C>G	GRCh37
NC_000004.10:g.80051986C>G	NCBI36
NG_047162.1:g.140431C>G
NG_053104.1:g.32631G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.3261C>G (BMP2K) MANE Select	ENSP00000424668.2:p.Gly1087=
ENST00000335016.9:c.3261C>G (BMP2K)	ENSP00000334836.5:p.Gly1087=
ENST00000342820.10:c.*782+3402G>C (PAQR3)	ENSP00000344203.6:n.*782+3402G>C
ENST00000502613.1:c.2338C>G (BMP2K)
ENST00000511594.5:c.*381G>C (PAQR3)	ENSP00000425080.1:n.*381G>C
ENST00000512760.5:c.*792+3402G>C (PAQR3)	ENSP00000426875.1:n.*792+3402G>C
ENST00000628286.1:c.*2237C>G (BMP2K)	ENSP00000487317.1:n.*2237C>G
NM_198892.1:c.3261C>G (BMP2K)	NP_942595.1:p.Gly1087=
XM_005263117.1:c.3150C>G (BMP2K)	XP_005263174.1:p.Gly1050=
XM_011532101.1:c.3021C>G (BMP2K)	XP_011530403.1:p.Gly1007=
XR_938694.1:n.1118-5647G>C (PAQR3)
XM_017008381.1:c.3021C>G (BMP2K)	XP_016863870.1:p.Gly1007=
XM_017008382.1:c.2373C>G (BMP2K)	XP_016863871.1:p.Gly791=
XR_938694.3:n.1098-5647G>C (PAQR3)
NM_198892.2:c.3261C>G (BMP2K) MANE Select	NP_942595.1:p.Gly1087=