Canonical Allele Identifier: CA100003625

Linked Data

dbSNP Id: rs1021359582
gnomAD v2: 4-79832867-G-A
gnomAD v3: 4-78911713-G-A
gnomAD v4: 4-78911713-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78911713G>A , CM000666.2:g.78911713G>A GRCh38
NC_000004.11:g.79832867G>A , CM000666.1:g.79832867G>A GRCh37
NC_000004.10:g.80051891G>A NCBI36
NG_047162.1:g.140336G>A
NG_053104.1:g.32726C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000502613.3:c.3166G>A (BMP2K) MANE Select ENSP00000424668.2:p.Gly1056Arg
ENST00000335016.9:c.3166G>A (BMP2K) ENSP00000334836.5:p.Gly1056Arg
ENST00000342820.10:c.*782+3497C>T (PAQR3) ENSP00000344203.6:n.*782+3497C>T
ENST00000502613.1:c.2243G>A (BMP2K)
ENST00000511594.5:c.*476C>T (PAQR3) ENSP00000425080.1:n.*476C>T
ENST00000512760.5:c.*792+3497C>T (PAQR3) ENSP00000426875.1:n.*792+3497C>T
ENST00000628286.1:c.*2142G>A (BMP2K) ENSP00000487317.1:n.*2142G>A
NM_198892.1:c.3166G>A (BMP2K) NP_942595.1:p.Gly1056Arg
XM_005263117.1:c.3055G>A (BMP2K) XP_005263174.1:p.Gly1019Arg
XM_011532101.1:c.2926G>A (BMP2K) XP_011530403.1:p.Gly976Arg
XR_938694.1:n.1118-5552C>T (PAQR3)
XM_017008381.1:c.2926G>A (BMP2K) XP_016863870.1:p.Gly976Arg
XM_017008382.1:c.2278G>A (BMP2K) XP_016863871.1:p.Gly760Arg
XR_938694.3:n.1098-5552C>T (PAQR3)
NM_198892.2:c.3166G>A (BMP2K) MANE Select NP_942595.1:p.Gly1056Arg