Canonical Allele Identifier: CA357378677
Gene: BMP2K HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78865693G>A , CM000666.2:g.78865693G>A GRCh38
NC_000004.11:g.79786847G>A , CM000666.1:g.79786847G>A GRCh37
NC_000004.10:g.80005871G>A NCBI36
NG_047162.1:g.94316G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000502613.3:c.1204G>A MANE Select ENSP00000424668.2:p.Gly402Ser
ENST00000335016.9:c.1204G>A ENSP00000334836.5:p.Gly402Ser
ENST00000389010.7:c.*180G>A ENSP00000373662.3:n.*180G>A
ENST00000502613.1:c.281G>A
ENST00000502871.5:c.1204G>A ENSP00000421768.1:p.Gly402Ser
ENST00000505725.1:n.486G>A
ENST00000628286.1:c.*180G>A ENSP00000487317.1:n.*180G>A
NM_017593.3:c.1204G>A NP_060063.2:p.Gly402Ser
NM_198892.1:c.1204G>A NP_942595.1:p.Gly402Ser
XM_005263117.1:c.1204G>A XP_005263174.1:p.Gly402Ser
XM_011532101.1:c.964G>A XP_011530403.1:p.Gly322Ser
XM_011532102.1:c.1204G>A XP_011530404.1:p.Gly402Ser
XM_017008381.1:c.964G>A XP_016863870.1:p.Gly322Ser
XM_017008382.1:c.316G>A XP_016863871.1:p.Gly106Ser
NM_017593.4:c.1204G>A NP_060063.2:p.Gly402Ser
NM_017593.5:c.1204G>A NP_060063.2:p.Gly402Ser
NM_198892.2:c.1204G>A MANE Select NP_942595.1:p.Gly402Ser