Canonical Allele Identifier: CA2671157145

Gene: BMP2K

Linked Data

• gnomAD v4: 4-78865765-ATAAACCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78865767_78865773del , CM000666.2:g.78865767_78865773del	GRCh38
NC_000004.11:g.79786921_79786927del , CM000666.1:g.79786921_79786927del	GRCh37
NC_000004.10:g.80005945_80005951del	NCBI36
NG_047162.1:g.94390_94396del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.1231+47_1231+53del MANE Select	ENSP00000424668.2:n.1231+47_1231+53del
ENST00000335016.9:c.1231+47_1231+53del	ENSP00000334836.5:n.1231+47_1231+53del
ENST00000389010.7:c.*207+47_*207+53del	ENSP00000373662.3:n.*207+47_*207+53del
ENST00000502613.1:c.308+47_308+53del
ENST00000502871.5:c.1231+47_1231+53del	ENSP00000421768.1:n.1231+47_1231+53del
ENST00000505725.1:n.560_566del
ENST00000628286.1:c.*207+47_*207+53del	ENSP00000487317.1:n.*207+47_*207+53del
NM_017593.3:c.1231+47_1231+53del	NP_060063.2:n.1231+47_1231+53del
NM_198892.1:c.1231+47_1231+53del	NP_942595.1:n.1231+47_1231+53del
XM_005263117.1:c.1231+47_1231+53del	XP_005263174.1:n.1231+47_1231+53del
XM_011532101.1:c.991+47_991+53del	XP_011530403.1:n.991+47_991+53del
XM_011532102.1:c.1231+47_1231+53del	XP_011530404.1:n.1231+47_1231+53del
XM_017008381.1:c.991+47_991+53del	XP_016863870.1:n.991+47_991+53del
XM_017008382.1:c.343+47_343+53del	XP_016863871.1:n.343+47_343+53del
NM_017593.4:c.1231+47_1231+53del	NP_060063.2:n.1231+47_1231+53del
NM_017593.5:c.1231+47_1231+53del	NP_060063.2:n.1231+47_1231+53del
NM_198892.2:c.1231+47_1231+53del MANE Select	NP_942595.1:n.1231+47_1231+53del