Canonical Allele Identifier: CA100003393

Gene: BMP2K PAQR3

Linked Data

• dbSNP Id: rs34869402
• MyVariant Identifiers: chr4:g.79832604del (hg19) ; chr4:g.78911450del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911454del , CM000666.2:g.78911454del	GRCh38
NC_000004.11:g.79832608del , CM000666.1:g.79832608del	GRCh37
NC_000004.10:g.80051632del	NCBI36
NG_047162.1:g.140077del
NG_053104.1:g.32989del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.2907del (BMP2K) MANE Select	ENSP00000424668.2:p.Val970SerfsTer?
ENST00000335016.9:c.2907del (BMP2K)	ENSP00000334836.5:p.Val970SerfsTer?
ENST00000342820.10:c.*782+3760del (PAQR3)	ENSP00000344203.6:n.*782+3760del
ENST00000502613.1:c.1984del (BMP2K)
ENST00000511594.5:c.*739del (PAQR3)	ENSP00000425080.1:n.*739del
ENST00000512760.5:c.*792+3760del (PAQR3)	ENSP00000426875.1:n.*792+3760del
ENST00000628286.1:c.*1883del (BMP2K)	ENSP00000487317.1:n.*1883del
NM_198892.1:c.2907del (BMP2K)	NP_942595.1:p.Val970SerfsTer?
XM_005263117.1:c.2796del (BMP2K)	XP_005263174.1:p.Val933SerfsTer?
XM_011532101.1:c.2667del (BMP2K)	XP_011530403.1:p.Val890SerfsTer?
XR_938694.1:n.1118-5289del (PAQR3)
XM_017008381.1:c.2667del (BMP2K)	XP_016863870.1:p.Val890SerfsTer?
XM_017008382.1:c.2019del (BMP2K)	XP_016863871.1:p.Val674SerfsTer?
XR_938694.3:n.1098-5289del (PAQR3)
NM_198892.2:c.2907del (BMP2K) MANE Select	NP_942595.1:p.Val970SerfsTer?