Canonical Allele Identifier: CA2980663

Linked Data

dbSNP Id: rs372826254
gnomAD v2: 4-79832664-A-G
gnomAD v3: 4-78911510-A-G
gnomAD v4: 4-78911510-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78911510A>G , CM000666.2:g.78911510A>G GRCh38
NC_000004.11:g.79832664A>G , CM000666.1:g.79832664A>G GRCh37
NC_000004.10:g.80051688A>G NCBI36
NG_047162.1:g.140133A>G
NG_053104.1:g.32929T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000502613.3:c.2963A>G (BMP2K) MANE Select ENSP00000424668.2:p.Asp988Gly
ENST00000335016.9:c.2963A>G (BMP2K) ENSP00000334836.5:p.Asp988Gly
ENST00000342820.10:c.*782+3700T>C (PAQR3) ENSP00000344203.6:n.*782+3700T>C
ENST00000502613.1:c.2040A>G (BMP2K)
ENST00000511594.5:c.*679T>C (PAQR3) ENSP00000425080.1:n.*679T>C
ENST00000512760.5:c.*792+3700T>C (PAQR3) ENSP00000426875.1:n.*792+3700T>C
ENST00000628286.1:c.*1939A>G (BMP2K) ENSP00000487317.1:n.*1939A>G
NM_198892.1:c.2963A>G (BMP2K) NP_942595.1:p.Asp988Gly
XM_005263117.1:c.2852A>G (BMP2K) XP_005263174.1:p.Asp951Gly
XM_011532101.1:c.2723A>G (BMP2K) XP_011530403.1:p.Asp908Gly
XR_938694.1:n.1118-5349T>C (PAQR3)
XM_017008381.1:c.2723A>G (BMP2K) XP_016863870.1:p.Asp908Gly
XM_017008382.1:c.2075A>G (BMP2K) XP_016863871.1:p.Asp692Gly
XR_938694.3:n.1098-5349T>C (PAQR3)
NM_198892.2:c.2963A>G (BMP2K) MANE Select NP_942595.1:p.Asp988Gly