Canonical Allele Identifier: CA357378650
Gene: BMP2K HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78865679A>T , CM000666.2:g.78865679A>T GRCh38
NC_000004.11:g.79786833A>T , CM000666.1:g.79786833A>T GRCh37
NC_000004.10:g.80005857A>T NCBI36
NG_047162.1:g.94302A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000502613.3:c.1190A>T MANE Select ENSP00000424668.2:p.Lys397Ile
ENST00000335016.9:c.1190A>T ENSP00000334836.5:p.Lys397Ile
ENST00000389010.7:c.*166A>T ENSP00000373662.3:n.*166A>T
ENST00000502613.1:c.267A>T
ENST00000502871.5:c.1190A>T ENSP00000421768.1:p.Lys397Ile
ENST00000505725.1:n.472A>T
ENST00000628286.1:c.*166A>T ENSP00000487317.1:n.*166A>T
NM_017593.3:c.1190A>T NP_060063.2:p.Lys397Ile
NM_198892.1:c.1190A>T NP_942595.1:p.Lys397Ile
XM_005263117.1:c.1190A>T XP_005263174.1:p.Lys397Ile
XM_011532101.1:c.950A>T XP_011530403.1:p.Lys317Ile
XM_011532102.1:c.1190A>T XP_011530404.1:p.Lys397Ile
XM_017008381.1:c.950A>T XP_016863870.1:p.Lys317Ile
XM_017008382.1:c.302A>T XP_016863871.1:p.Lys101Ile
NM_017593.4:c.1190A>T NP_060063.2:p.Lys397Ile
NM_017593.5:c.1190A>T NP_060063.2:p.Lys397Ile
NM_198892.2:c.1190A>T MANE Select NP_942595.1:p.Lys397Ile