Canonical Allele Identifier: CA1470756708

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78911460A= , CM000666.2:g.78911460A= GRCh38
NC_000004.11:g.79832614A= , CM000666.1:g.79832614A= GRCh37
NC_000004.10:g.80051638A= NCBI36
NG_047162.1:g.140083A=
NG_053104.1:g.32979T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000502613.3:c.2913A= (BMP2K) MANE Select ENSP00000424668.2:p.Lys971=
ENST00000335016.9:c.2913A= (BMP2K) ENSP00000334836.5:p.Lys971=
ENST00000342820.10:c.*782+3750T= (PAQR3) ENSP00000344203.6:n.*782+3750T=
ENST00000502613.1:c.1990A= (BMP2K)
ENST00000511594.5:c.*729T= (PAQR3) ENSP00000425080.1:n.*729T=
ENST00000512760.5:c.*792+3750T= (PAQR3) ENSP00000426875.1:n.*792+3750T=
ENST00000628286.1:c.*1889A= (BMP2K) ENSP00000487317.1:n.*1889A=
NM_198892.1:c.2913A= (BMP2K) NP_942595.1:p.Lys971=
XM_005263117.1:c.2802A= (BMP2K) XP_005263174.1:p.Lys934=
XM_011532101.1:c.2673A= (BMP2K) XP_011530403.1:p.Lys891=
XR_938694.1:n.1118-5299T= (PAQR3)
XM_017008381.1:c.2673A= (BMP2K) XP_016863870.1:p.Lys891=
XM_017008382.1:c.2025A= (BMP2K) XP_016863871.1:p.Lys675=
XR_938694.3:n.1098-5299T= (PAQR3)
NM_198892.2:c.2913A= (BMP2K) MANE Select NP_942595.1:p.Lys971=