Canonical Allele Identifier: CA1470756871

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78911825C= , CM000666.2:g.78911825C= GRCh38
NC_000004.11:g.79832979C= , CM000666.1:g.79832979C= GRCh37
NC_000004.10:g.80052003C= NCBI36
NG_047162.1:g.140448C=
NG_053104.1:g.32614G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000502613.3:c.3278C= (BMP2K) MANE Select ENSP00000424668.2:p.Ala1093=
ENST00000335016.9:c.3278C= (BMP2K) ENSP00000334836.5:p.Ala1093=
ENST00000342820.10:c.*782+3385G= (PAQR3) ENSP00000344203.6:n.*782+3385G=
ENST00000502613.1:c.2355C= (BMP2K)
ENST00000511594.5:c.*364G= (PAQR3) ENSP00000425080.1:n.*364G=
ENST00000512760.5:c.*792+3385G= (PAQR3) ENSP00000426875.1:n.*792+3385G=
ENST00000628286.1:c.*2254C= (BMP2K) ENSP00000487317.1:n.*2254C=
NM_198892.1:c.3278C= (BMP2K) NP_942595.1:p.Ala1093=
XM_005263117.1:c.3167C= (BMP2K) XP_005263174.1:p.Ala1056=
XM_011532101.1:c.3038C= (BMP2K) XP_011530403.1:p.Ala1013=
XR_938694.1:n.1118-5664G= (PAQR3)
XM_017008381.1:c.3038C= (BMP2K) XP_016863870.1:p.Ala1013=
XM_017008382.1:c.2390C= (BMP2K) XP_016863871.1:p.Ala797=
XR_938694.3:n.1098-5664G= (PAQR3)
NM_198892.2:c.3278C= (BMP2K) MANE Select NP_942595.1:p.Ala1093=