Canonical Allele Identifier: CA357403210

Linked Data

dbSNP Id: rs1335782363
gnomAD v3: 4-78911488-C-T
gnomAD v4: 4-78911488-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78911488C>T , CM000666.2:g.78911488C>T GRCh38
NC_000004.11:g.79832642C>T , CM000666.1:g.79832642C>T GRCh37
NC_000004.10:g.80051666C>T NCBI36
NG_047162.1:g.140111C>T
NG_053104.1:g.32951G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000502613.3:c.2941C>T (BMP2K) MANE Select ENSP00000424668.2:p.Arg981Cys
ENST00000335016.9:c.2941C>T (BMP2K) ENSP00000334836.5:p.Arg981Cys
ENST00000342820.10:c.*782+3722G>A (PAQR3) ENSP00000344203.6:n.*782+3722G>A
ENST00000502613.1:c.2018C>T (BMP2K)
ENST00000511594.5:c.*701G>A (PAQR3) ENSP00000425080.1:n.*701G>A
ENST00000512760.5:c.*792+3722G>A (PAQR3) ENSP00000426875.1:n.*792+3722G>A
ENST00000628286.1:c.*1917C>T (BMP2K) ENSP00000487317.1:n.*1917C>T
NM_198892.1:c.2941C>T (BMP2K) NP_942595.1:p.Arg981Cys
XM_005263117.1:c.2830C>T (BMP2K) XP_005263174.1:p.Arg944Cys
XM_011532101.1:c.2701C>T (BMP2K) XP_011530403.1:p.Arg901Cys
XR_938694.1:n.1118-5327G>A (PAQR3)
XM_017008381.1:c.2701C>T (BMP2K) XP_016863870.1:p.Arg901Cys
XM_017008382.1:c.2053C>T (BMP2K) XP_016863871.1:p.Arg685Cys
XR_938694.3:n.1098-5327G>A (PAQR3)
NM_198892.2:c.2941C>T (BMP2K) MANE Select NP_942595.1:p.Arg981Cys