Canonical Allele Identifier: CA357401729

Gene: BMP2K PAQR3

Linked Data

• MyVariant Identifiers: chr4:g.79832444G>T (hg19) ; chr4:g.78911290G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911290G>T , CM000666.2:g.78911290G>T	GRCh38
NC_000004.11:g.79832444G>T , CM000666.1:g.79832444G>T	GRCh37
NC_000004.10:g.80051468G>T	NCBI36
NG_047162.1:g.139913G>T
NG_053104.1:g.33149C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.2743G>T (BMP2K) MANE Select	ENSP00000424668.2:p.Val915Leu
ENST00000335016.9:c.2743G>T (BMP2K)	ENSP00000334836.5:p.Val915Leu
ENST00000342820.10:c.*782+3920C>A (PAQR3)	ENSP00000344203.6:n.*782+3920C>A
ENST00000502613.1:c.1820G>T (BMP2K)
ENST00000511594.5:c.*899C>A (PAQR3)	ENSP00000425080.1:n.*899C>A
ENST00000512760.5:c.*792+3920C>A (PAQR3)	ENSP00000426875.1:n.*792+3920C>A
ENST00000628286.1:c.*1719G>T (BMP2K)	ENSP00000487317.1:n.*1719G>T
NM_198892.1:c.2743G>T (BMP2K)	NP_942595.1:p.Val915Leu
XM_005263117.1:c.2632G>T (BMP2K)	XP_005263174.1:p.Val878Leu
XM_011532101.1:c.2503G>T (BMP2K)	XP_011530403.1:p.Val835Leu
XR_938694.1:n.1118-5129C>A (PAQR3)
XM_017008381.1:c.2503G>T (BMP2K)	XP_016863870.1:p.Val835Leu
XM_017008382.1:c.1855G>T (BMP2K)	XP_016863871.1:p.Val619Leu
XR_938694.3:n.1098-5129C>A (PAQR3)
NM_198892.2:c.2743G>T (BMP2K) MANE Select	NP_942595.1:p.Val915Leu