Canonical Allele Identifier: CA357403296

Gene: BMP2K PAQR3

Linked Data

• MyVariant Identifiers: chr4:g.79832659G>T (hg19) ; chr4:g.78911505G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911505G>T , CM000666.2:g.78911505G>T	GRCh38
NC_000004.11:g.79832659G>T , CM000666.1:g.79832659G>T	GRCh37
NC_000004.10:g.80051683G>T	NCBI36
NG_047162.1:g.140128G>T
NG_053104.1:g.32934C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.2958G>T (BMP2K) MANE Select	ENSP00000424668.2:p.Lys986Asn
ENST00000335016.9:c.2958G>T (BMP2K)	ENSP00000334836.5:p.Lys986Asn
ENST00000342820.10:c.*782+3705C>A (PAQR3)	ENSP00000344203.6:n.*782+3705C>A
ENST00000502613.1:c.2035G>T (BMP2K)
ENST00000511594.5:c.*684C>A (PAQR3)	ENSP00000425080.1:n.*684C>A
ENST00000512760.5:c.*792+3705C>A (PAQR3)	ENSP00000426875.1:n.*792+3705C>A
ENST00000628286.1:c.*1934G>T (BMP2K)	ENSP00000487317.1:n.*1934G>T
NM_198892.1:c.2958G>T (BMP2K)	NP_942595.1:p.Lys986Asn
XM_005263117.1:c.2847G>T (BMP2K)	XP_005263174.1:p.Lys949Asn
XM_011532101.1:c.2718G>T (BMP2K)	XP_011530403.1:p.Lys906Asn
XR_938694.1:n.1118-5344C>A (PAQR3)
XM_017008381.1:c.2718G>T (BMP2K)	XP_016863870.1:p.Lys906Asn
XM_017008382.1:c.2070G>T (BMP2K)	XP_016863871.1:p.Lys690Asn
XR_938694.3:n.1098-5344C>A (PAQR3)
NM_198892.2:c.2958G>T (BMP2K) MANE Select	NP_942595.1:p.Lys986Asn