Canonical Allele Identifier: CA357403439

Gene: BMP2K PAQR3

Linked Data

• MyVariant Identifiers: chr4:g.79832678A>T (hg19) ; chr4:g.78911524A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911524A>T , CM000666.2:g.78911524A>T	GRCh38
NC_000004.11:g.79832678A>T , CM000666.1:g.79832678A>T	GRCh37
NC_000004.10:g.80051702A>T	NCBI36
NG_047162.1:g.140147A>T
NG_053104.1:g.32915T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.2977A>T (BMP2K) MANE Select	ENSP00000424668.2:p.Asn993Tyr
ENST00000335016.9:c.2977A>T (BMP2K)	ENSP00000334836.5:p.Asn993Tyr
ENST00000342820.10:c.*782+3686T>A (PAQR3)	ENSP00000344203.6:n.*782+3686T>A
ENST00000502613.1:c.2054A>T (BMP2K)
ENST00000511594.5:c.*665T>A (PAQR3)	ENSP00000425080.1:n.*665T>A
ENST00000512760.5:c.*792+3686T>A (PAQR3)	ENSP00000426875.1:n.*792+3686T>A
ENST00000628286.1:c.*1953A>T (BMP2K)	ENSP00000487317.1:n.*1953A>T
NM_198892.1:c.2977A>T (BMP2K)	NP_942595.1:p.Asn993Tyr
XM_005263117.1:c.2866A>T (BMP2K)	XP_005263174.1:p.Asn956Tyr
XM_011532101.1:c.2737A>T (BMP2K)	XP_011530403.1:p.Asn913Tyr
XR_938694.1:n.1118-5363T>A (PAQR3)
XM_017008381.1:c.2737A>T (BMP2K)	XP_016863870.1:p.Asn913Tyr
XM_017008382.1:c.2089A>T (BMP2K)	XP_016863871.1:p.Asn697Tyr
XR_938694.3:n.1098-5363T>A (PAQR3)
NM_198892.2:c.2977A>T (BMP2K) MANE Select	NP_942595.1:p.Asn993Tyr