Canonical Allele Identifier: CA2980692

Linked Data

dbSNP Id: rs7682647
gnomAD v2: 4-79832815-C-G
gnomAD v3: 4-78911661-C-G
gnomAD v4: 4-78911661-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78911661C>G , CM000666.2:g.78911661C>G GRCh38
NC_000004.11:g.79832815C>G , CM000666.1:g.79832815C>G GRCh37
NC_000004.10:g.80051839C>G NCBI36
NG_047162.1:g.140284C>G
NG_053104.1:g.32778G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000502613.3:c.3114C>G (BMP2K) MANE Select ENSP00000424668.2:p.Ile1038Met
ENST00000335016.9:c.3114C>G (BMP2K) ENSP00000334836.5:p.Ile1038Met
ENST00000342820.10:c.*782+3549G>C (PAQR3) ENSP00000344203.6:n.*782+3549G>C
ENST00000502613.1:c.2191C>G (BMP2K)
ENST00000511594.5:c.*528G>C (PAQR3) ENSP00000425080.1:n.*528G>C
ENST00000512760.5:c.*792+3549G>C (PAQR3) ENSP00000426875.1:n.*792+3549G>C
ENST00000628286.1:c.*2090C>G (BMP2K) ENSP00000487317.1:n.*2090C>G
NM_198892.1:c.3114C>G (BMP2K) NP_942595.1:p.Ile1038Met
XM_005263117.1:c.3003C>G (BMP2K) XP_005263174.1:p.Ile1001Met
XM_011532101.1:c.2874C>G (BMP2K) XP_011530403.1:p.Ile958Met
XR_938694.1:n.1118-5500G>C (PAQR3)
XM_017008381.1:c.2874C>G (BMP2K) XP_016863870.1:p.Ile958Met
XM_017008382.1:c.2226C>G (BMP2K) XP_016863871.1:p.Ile742Met
XR_938694.3:n.1098-5500G>C (PAQR3)
NM_198892.2:c.3114C>G (BMP2K) MANE Select NP_942595.1:p.Ile1038Met