Canonical Allele Identifier: CA1470756838

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78911758G= , CM000666.2:g.78911758G= GRCh38
NC_000004.11:g.79832912G= , CM000666.1:g.79832912G= GRCh37
NC_000004.10:g.80051936G= NCBI36
NG_047162.1:g.140381G=
NG_053104.1:g.32681C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000502613.3:c.3211G= (BMP2K) MANE Select ENSP00000424668.2:p.Ala1071=
ENST00000335016.9:c.3211G= (BMP2K) ENSP00000334836.5:p.Ala1071=
ENST00000342820.10:c.*782+3452C= (PAQR3) ENSP00000344203.6:n.*782+3452C=
ENST00000502613.1:c.2288G= (BMP2K)
ENST00000511594.5:c.*431C= (PAQR3) ENSP00000425080.1:n.*431C=
ENST00000512760.5:c.*792+3452C= (PAQR3) ENSP00000426875.1:n.*792+3452C=
ENST00000628286.1:c.*2187G= (BMP2K) ENSP00000487317.1:n.*2187G=
NM_198892.1:c.3211G= (BMP2K) NP_942595.1:p.Ala1071=
XM_005263117.1:c.3100G= (BMP2K) XP_005263174.1:p.Ala1034=
XM_011532101.1:c.2971G= (BMP2K) XP_011530403.1:p.Ala991=
XR_938694.1:n.1118-5597C= (PAQR3)
XM_017008381.1:c.2971G= (BMP2K) XP_016863870.1:p.Ala991=
XM_017008382.1:c.2323G= (BMP2K) XP_016863871.1:p.Ala775=
XR_938694.3:n.1098-5597C= (PAQR3)
NM_198892.2:c.3211G= (BMP2K) MANE Select NP_942595.1:p.Ala1071=