Canonical Allele Identifier: CA357404603

Linked Data

dbSNP Id: rs1577989689

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78911705A>G , CM000666.2:g.78911705A>G GRCh38
NC_000004.11:g.79832859A>G , CM000666.1:g.79832859A>G GRCh37
NC_000004.10:g.80051883A>G NCBI36
NG_047162.1:g.140328A>G
NG_053104.1:g.32734T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000502613.3:c.3158A>G (BMP2K) MANE Select ENSP00000424668.2:p.Lys1053Arg
ENST00000335016.9:c.3158A>G (BMP2K) ENSP00000334836.5:p.Lys1053Arg
ENST00000342820.10:c.*782+3505T>C (PAQR3) ENSP00000344203.6:n.*782+3505T>C
ENST00000502613.1:c.2235A>G (BMP2K)
ENST00000511594.5:c.*484T>C (PAQR3) ENSP00000425080.1:n.*484T>C
ENST00000512760.5:c.*792+3505T>C (PAQR3) ENSP00000426875.1:n.*792+3505T>C
ENST00000628286.1:c.*2134A>G (BMP2K) ENSP00000487317.1:n.*2134A>G
NM_198892.1:c.3158A>G (BMP2K) NP_942595.1:p.Lys1053Arg
XM_005263117.1:c.3047A>G (BMP2K) XP_005263174.1:p.Lys1016Arg
XM_011532101.1:c.2918A>G (BMP2K) XP_011530403.1:p.Lys973Arg
XR_938694.1:n.1118-5544T>C (PAQR3)
XM_017008381.1:c.2918A>G (BMP2K) XP_016863870.1:p.Lys973Arg
XM_017008382.1:c.2270A>G (BMP2K) XP_016863871.1:p.Lys757Arg
XR_938694.3:n.1098-5544T>C (PAQR3)
NM_198892.2:c.3158A>G (BMP2K) MANE Select NP_942595.1:p.Lys1053Arg