Canonical Allele Identifier: CA1470756750

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78911548C= , CM000666.2:g.78911548C= GRCh38
NC_000004.11:g.79832702C= , CM000666.1:g.79832702C= GRCh37
NC_000004.10:g.80051726C= NCBI36
NG_047162.1:g.140171C=
NG_053104.1:g.32891G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000502613.3:c.3001C= (BMP2K) MANE Select ENSP00000424668.2:p.Pro1001=
ENST00000335016.9:c.3001C= (BMP2K) ENSP00000334836.5:p.Pro1001=
ENST00000342820.10:c.*782+3662G= (PAQR3) ENSP00000344203.6:n.*782+3662G=
ENST00000502613.1:c.2078C= (BMP2K)
ENST00000511594.5:c.*641G= (PAQR3) ENSP00000425080.1:n.*641G=
ENST00000512760.5:c.*792+3662G= (PAQR3) ENSP00000426875.1:n.*792+3662G=
ENST00000628286.1:c.*1977C= (BMP2K) ENSP00000487317.1:n.*1977C=
NM_198892.1:c.3001C= (BMP2K) NP_942595.1:p.Pro1001=
XM_005263117.1:c.2890C= (BMP2K) XP_005263174.1:p.Pro964=
XM_011532101.1:c.2761C= (BMP2K) XP_011530403.1:p.Pro921=
XR_938694.1:n.1118-5387G= (PAQR3)
XM_017008381.1:c.2761C= (BMP2K) XP_016863870.1:p.Pro921=
XM_017008382.1:c.2113C= (BMP2K) XP_016863871.1:p.Pro705=
XR_938694.3:n.1098-5387G= (PAQR3)
NM_198892.2:c.3001C= (BMP2K) MANE Select NP_942595.1:p.Pro1001=