Canonical Allele Identifier: CA357403013

Gene: BMP2K PAQR3

Linked Data

• MyVariant Identifiers: chr4:g.79832612A>T (hg19) ; chr4:g.78911458A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911458A>T , CM000666.2:g.78911458A>T	GRCh38
NC_000004.11:g.79832612A>T , CM000666.1:g.79832612A>T	GRCh37
NC_000004.10:g.80051636A>T	NCBI36
NG_047162.1:g.140081A>T
NG_053104.1:g.32981T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.2911A>T (BMP2K) MANE Select	ENSP00000424668.2:p.Lys971Ter
ENST00000335016.9:c.2911A>T (BMP2K)	ENSP00000334836.5:p.Lys971Ter
ENST00000342820.10:c.*782+3752T>A (PAQR3)	ENSP00000344203.6:n.*782+3752T>A
ENST00000502613.1:c.1988A>T (BMP2K)
ENST00000511594.5:c.*731T>A (PAQR3)	ENSP00000425080.1:n.*731T>A
ENST00000512760.5:c.*792+3752T>A (PAQR3)	ENSP00000426875.1:n.*792+3752T>A
ENST00000628286.1:c.*1887A>T (BMP2K)	ENSP00000487317.1:n.*1887A>T
NM_198892.1:c.2911A>T (BMP2K)	NP_942595.1:p.Lys971Ter
XM_005263117.1:c.2800A>T (BMP2K)	XP_005263174.1:p.Lys934Ter
XM_011532101.1:c.2671A>T (BMP2K)	XP_011530403.1:p.Lys891Ter
XR_938694.1:n.1118-5297T>A (PAQR3)
XM_017008381.1:c.2671A>T (BMP2K)	XP_016863870.1:p.Lys891Ter
XM_017008382.1:c.2023A>T (BMP2K)	XP_016863871.1:p.Lys675Ter
XR_938694.3:n.1098-5297T>A (PAQR3)
NM_198892.2:c.2911A>T (BMP2K) MANE Select	NP_942595.1:p.Lys971Ter