Canonical Allele Identifier: CA1064490442

Gene: BMP2K

Linked Data

• dbSNP Id: rs1732019407
• gnomAD v3: 4-78865751-AAAGGTT-A
• gnomAD v4: 4-78865751-AAAGGTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78865754_78865759del , CM000666.2:g.78865754_78865759del	GRCh38
NC_000004.11:g.79786908_79786913del , CM000666.1:g.79786908_79786913del	GRCh37
NC_000004.10:g.80005932_80005937del	NCBI36
NG_047162.1:g.94377_94382del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.1231+34_1231+39del MANE Select	ENSP00000424668.2:n.1231+34_1231+39del
ENST00000335016.9:c.1231+34_1231+39del	ENSP00000334836.5:n.1231+34_1231+39del
ENST00000389010.7:c.*207+34_*207+39del	ENSP00000373662.3:n.*207+34_*207+39del
ENST00000502613.1:c.308+34_308+39del
ENST00000502871.5:c.1231+34_1231+39del	ENSP00000421768.1:n.1231+34_1231+39del
ENST00000505725.1:n.547_552del
ENST00000628286.1:c.*207+34_*207+39del	ENSP00000487317.1:n.*207+34_*207+39del
NM_017593.3:c.1231+34_1231+39del	NP_060063.2:n.1231+34_1231+39del
NM_198892.1:c.1231+34_1231+39del	NP_942595.1:n.1231+34_1231+39del
XM_005263117.1:c.1231+34_1231+39del	XP_005263174.1:n.1231+34_1231+39del
XM_011532101.1:c.991+34_991+39del	XP_011530403.1:n.991+34_991+39del
XM_011532102.1:c.1231+34_1231+39del	XP_011530404.1:n.1231+34_1231+39del
XM_017008381.1:c.991+34_991+39del	XP_016863870.1:n.991+34_991+39del
XM_017008382.1:c.343+34_343+39del	XP_016863871.1:n.343+34_343+39del
NM_017593.4:c.1231+34_1231+39del	NP_060063.2:n.1231+34_1231+39del
NM_017593.5:c.1231+34_1231+39del	NP_060063.2:n.1231+34_1231+39del
NM_198892.2:c.1231+34_1231+39del MANE Select	NP_942595.1:n.1231+34_1231+39del