Canonical Allele Identifier: CA1470756861

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78911806G= , CM000666.2:g.78911806G= GRCh38
NC_000004.11:g.79832960G= , CM000666.1:g.79832960G= GRCh37
NC_000004.10:g.80051984G= NCBI36
NG_047162.1:g.140429G=
NG_053104.1:g.32633C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000502613.3:c.3259G= (BMP2K) MANE Select ENSP00000424668.2:p.Gly1087=
ENST00000335016.9:c.3259G= (BMP2K) ENSP00000334836.5:p.Gly1087=
ENST00000342820.10:c.*782+3404C= (PAQR3) ENSP00000344203.6:n.*782+3404C=
ENST00000502613.1:c.2336G= (BMP2K)
ENST00000511594.5:c.*383C= (PAQR3) ENSP00000425080.1:n.*383C=
ENST00000512760.5:c.*792+3404C= (PAQR3) ENSP00000426875.1:n.*792+3404C=
ENST00000628286.1:c.*2235G= (BMP2K) ENSP00000487317.1:n.*2235G=
NM_198892.1:c.3259G= (BMP2K) NP_942595.1:p.Gly1087=
XM_005263117.1:c.3148G= (BMP2K) XP_005263174.1:p.Gly1050=
XM_011532101.1:c.3019G= (BMP2K) XP_011530403.1:p.Gly1007=
XR_938694.1:n.1118-5645C= (PAQR3)
XM_017008381.1:c.3019G= (BMP2K) XP_016863870.1:p.Gly1007=
XM_017008382.1:c.2371G= (BMP2K) XP_016863871.1:p.Gly791=
XR_938694.3:n.1098-5645C= (PAQR3)
NM_198892.2:c.3259G= (BMP2K) MANE Select NP_942595.1:p.Gly1087=