Canonical Allele Identifier: CA357378546
Gene: BMP2K HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78865627A>C , CM000666.2:g.78865627A>C GRCh38
NC_000004.11:g.79786781A>C , CM000666.1:g.79786781A>C GRCh37
NC_000004.10:g.80005805A>C NCBI36
NG_047162.1:g.94250A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000502613.3:c.1138A>C MANE Select ENSP00000424668.2:p.Thr380Pro
ENST00000335016.9:c.1138A>C ENSP00000334836.5:p.Thr380Pro
ENST00000389010.7:c.*114A>C ENSP00000373662.3:n.*114A>C
ENST00000502613.1:c.215A>C
ENST00000502871.5:c.1138A>C ENSP00000421768.1:p.Thr380Pro
ENST00000505725.1:n.420A>C
ENST00000628286.1:c.*114A>C ENSP00000487317.1:n.*114A>C
NM_017593.3:c.1138A>C NP_060063.2:p.Thr380Pro
NM_198892.1:c.1138A>C NP_942595.1:p.Thr380Pro
XM_005263117.1:c.1138A>C XP_005263174.1:p.Thr380Pro
XM_011532101.1:c.898A>C XP_011530403.1:p.Thr300Pro
XM_011532102.1:c.1138A>C XP_011530404.1:p.Thr380Pro
XM_017008381.1:c.898A>C XP_016863870.1:p.Thr300Pro
XM_017008382.1:c.250A>C XP_016863871.1:p.Thr84Pro
NM_017593.4:c.1138A>C NP_060063.2:p.Thr380Pro
NM_017593.5:c.1138A>C NP_060063.2:p.Thr380Pro
NM_198892.2:c.1138A>C MANE Select NP_942595.1:p.Thr380Pro