Canonical Allele Identifier: CA1470756749

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78911547G= , CM000666.2:g.78911547G= GRCh38
NC_000004.11:g.79832701G= , CM000666.1:g.79832701G= GRCh37
NC_000004.10:g.80051725G= NCBI36
NG_047162.1:g.140170G=
NG_053104.1:g.32892C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000502613.3:c.3000G= (BMP2K) MANE Select ENSP00000424668.2:p.Thr1000=
ENST00000335016.9:c.3000G= (BMP2K) ENSP00000334836.5:p.Thr1000=
ENST00000342820.10:c.*782+3663C= (PAQR3) ENSP00000344203.6:n.*782+3663C=
ENST00000502613.1:c.2077G= (BMP2K)
ENST00000511594.5:c.*642C= (PAQR3) ENSP00000425080.1:n.*642C=
ENST00000512760.5:c.*792+3663C= (PAQR3) ENSP00000426875.1:n.*792+3663C=
ENST00000628286.1:c.*1976G= (BMP2K) ENSP00000487317.1:n.*1976G=
NM_198892.1:c.3000G= (BMP2K) NP_942595.1:p.Thr1000=
XM_005263117.1:c.2889G= (BMP2K) XP_005263174.1:p.Thr963=
XM_011532101.1:c.2760G= (BMP2K) XP_011530403.1:p.Thr920=
XR_938694.1:n.1118-5386C= (PAQR3)
XM_017008381.1:c.2760G= (BMP2K) XP_016863870.1:p.Thr920=
XM_017008382.1:c.2112G= (BMP2K) XP_016863871.1:p.Thr704=
XR_938694.3:n.1098-5386C= (PAQR3)
NM_198892.2:c.3000G= (BMP2K) MANE Select NP_942595.1:p.Thr1000=