Canonical Allele Identifier: CA440226296

Gene: BMP2K PAQR3

Linked Data

• dbSNP Id: rs779747644
• gnomAD v2: 4-79832449-G-T
• gnomAD v4: 4-78911295-G-T
• MyVariant Identifiers: chr4:g.79832449G>T (hg19) ; chr4:g.78911295G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911295G>T , CM000666.2:g.78911295G>T	GRCh38
NC_000004.11:g.79832449G>T , CM000666.1:g.79832449G>T	GRCh37
NC_000004.10:g.80051473G>T	NCBI36
NG_047162.1:g.139918G>T
NG_053104.1:g.33144C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.2748G>T (BMP2K) MANE Select	ENSP00000424668.2:p.Gly916=
ENST00000335016.9:c.2748G>T (BMP2K)	ENSP00000334836.5:p.Gly916=
ENST00000342820.10:c.*782+3915C>A (PAQR3)	ENSP00000344203.6:n.*782+3915C>A
ENST00000502613.1:c.1825G>T (BMP2K)
ENST00000511594.5:c.*894C>A (PAQR3)	ENSP00000425080.1:n.*894C>A
ENST00000512760.5:c.*792+3915C>A (PAQR3)	ENSP00000426875.1:n.*792+3915C>A
ENST00000628286.1:c.*1724G>T (BMP2K)	ENSP00000487317.1:n.*1724G>T
NM_198892.1:c.2748G>T (BMP2K)	NP_942595.1:p.Gly916=
XM_005263117.1:c.2637G>T (BMP2K)	XP_005263174.1:p.Gly879=
XM_011532101.1:c.2508G>T (BMP2K)	XP_011530403.1:p.Gly836=
XR_938694.1:n.1118-5134C>A (PAQR3)
XM_017008381.1:c.2508G>T (BMP2K)	XP_016863870.1:p.Gly836=
XM_017008382.1:c.1860G>T (BMP2K)	XP_016863871.1:p.Gly620=
XR_938694.3:n.1098-5134C>A (PAQR3)
NM_198892.2:c.2748G>T (BMP2K) MANE Select	NP_942595.1:p.Gly916=