Canonical Allele Identifier: CA1470756853

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78911792A= , CM000666.2:g.78911792A= GRCh38
NC_000004.11:g.79832946A= , CM000666.1:g.79832946A= GRCh37
NC_000004.10:g.80051970A= NCBI36
NG_047162.1:g.140415A=
NG_053104.1:g.32647T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000502613.3:c.3245A= (BMP2K) MANE Select ENSP00000424668.2:p.His1082=
ENST00000335016.9:c.3245A= (BMP2K) ENSP00000334836.5:p.His1082=
ENST00000342820.10:c.*782+3418T= (PAQR3) ENSP00000344203.6:n.*782+3418T=
ENST00000502613.1:c.2322A= (BMP2K)
ENST00000511594.5:c.*397T= (PAQR3) ENSP00000425080.1:n.*397T=
ENST00000512760.5:c.*792+3418T= (PAQR3) ENSP00000426875.1:n.*792+3418T=
ENST00000628286.1:c.*2221A= (BMP2K) ENSP00000487317.1:n.*2221A=
NM_198892.1:c.3245A= (BMP2K) NP_942595.1:p.His1082=
XM_005263117.1:c.3134A= (BMP2K) XP_005263174.1:p.His1045=
XM_011532101.1:c.3005A= (BMP2K) XP_011530403.1:p.His1002=
XR_938694.1:n.1118-5631T= (PAQR3)
XM_017008381.1:c.3005A= (BMP2K) XP_016863870.1:p.His1002=
XM_017008382.1:c.2357A= (BMP2K) XP_016863871.1:p.His786=
XR_938694.3:n.1098-5631T= (PAQR3)
NM_198892.2:c.3245A= (BMP2K) MANE Select NP_942595.1:p.His1082=