Canonical Allele Identifier: CA2830537230

Gene: BMP2K

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78865812_78865813insCA , CM000666.2:g.78865812_78865813insCA	GRCh38
NC_000004.11:g.79786966_79786967insCA , CM000666.1:g.79786966_79786967insCA	GRCh37
NC_000004.10:g.80005990_80005991insCA	NCBI36
NG_047162.1:g.94435_94436insCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.1231+92_1231+93insCA MANE Select	ENSP00000424668.2:n.1231+92_1231+93insCA
ENST00000335016.9:c.1231+92_1231+93insCA	ENSP00000334836.5:n.1231+92_1231+93insCA
ENST00000389010.7:c.*207+92_*207+93insCA	ENSP00000373662.3:n.*207+92_*207+93insCA
ENST00000502613.1:c.308+92_308+93insCA
ENST00000502871.5:c.1231+92_1231+93insCA	ENSP00000421768.1:n.1231+92_1231+93insCA
ENST00000628286.1:c.*207+92_*207+93insCA	ENSP00000487317.1:n.*207+92_*207+93insCA
NM_017593.3:c.1231+92_1231+93insCA	NP_060063.2:n.1231+92_1231+93insCA
NM_198892.1:c.1231+92_1231+93insCA	NP_942595.1:n.1231+92_1231+93insCA
XM_005263117.1:c.1231+92_1231+93insCA	XP_005263174.1:n.1231+92_1231+93insCA
XM_011532101.1:c.991+92_991+93insCA	XP_011530403.1:n.991+92_991+93insCA
XM_011532102.1:c.1231+92_1231+93insCA	XP_011530404.1:n.1231+92_1231+93insCA
XM_017008381.1:c.991+92_991+93insCA	XP_016863870.1:n.991+92_991+93insCA
XM_017008382.1:c.343+92_343+93insCA	XP_016863871.1:n.343+92_343+93insCA
NM_017593.4:c.1231+92_1231+93insCA	NP_060063.2:n.1231+92_1231+93insCA
NM_017593.5:c.1231+92_1231+93insCA	NP_060063.2:n.1231+92_1231+93insCA
NM_198892.2:c.1231+92_1231+93insCA MANE Select	NP_942595.1:n.1231+92_1231+93insCA