Canonical Allele Identifier: CA2980224

Gene: BMP2K

Linked Data

• ExAC: 4:79786875 G / GTATCTGTTATTCTACAACAGAAGAATATATTTCATTCTAAATACTGGGATTATTTC
• MyVariant Identifiers: chr4:g.79786875_79786876insTATCTGTTATTCTACAACAGAAGAATATATTTCATTCTAAATACTGGGATTATTTC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78865723_78865724insTCTGTTATTCTACAACAGAAGAATATATTTCATTCTAAATACTGGGATTATTTCTA , CM000666.2:g.78865723_78865724insTCTGTTATTCTACAACAGAAGAATATATTTCATTCTAAATACTGGGATTATTTCTA	GRCh38
NC_000004.11:g.79786877_79786878insTCTGTTATTCTACAACAGAAGAATATATTTCATTCTAAATACTGGGATTATTTCTA , CM000666.1:g.79786877_79786878insTCTGTTATTCTACAACAGAAGAATATATTTCATTCTAAATACTGGGATTATTTCTA	GRCh37
NC_000004.10:g.80005901_80005902insTCTGTTATTCTACAACAGAAGAATATATTTCATTCTAAATACTGGGATTATTTCTA	NCBI36
NG_047162.1:g.94346_94347insTCTGTTATTCTACAACAGAAGAATATATTTCATTCTAAATACTGGGATTATTTCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.1231+3_1231+4insTCTGTTATTCTACAACAGAAGAATATATTTCATTCTAAATACTGGGATTATTTCTA MANE Select	ENSP00000424668.2:n.1231+3_1231+4insTCTGTTATTCTACAACAGAAGAATA...
ENST00000335016.9:c.1231+3_1231+4insTCTGTTATTCTACAACAGAAGAATATATTTCATTCTAAATACTGGGATTATTTCTA	ENSP00000334836.5:n.1231+3_1231+4insTCTGTTATTCTACAACAGAAGAATA...
ENST00000389010.7:c.*207+3_*207+4insTCTGTTATTCTACAACAGAAGAATATATTTCATTCTAAATACTGGGATTATTTCTA	ENSP00000373662.3:n.*207+3_*207+4insTCTGTTATTCTACAACAGAAGAATA...
ENST00000502613.1:c.308+3_308+4insTCTGTTATTCTACAACAGAAGAATATATTTCATTCTAAATACTGGGATTATTTCTA
ENST00000502871.5:c.1231+3_1231+4insTCTGTTATTCTACAACAGAAGAATATATTTCATTCTAAATACTGGGATTATTTCTA	ENSP00000421768.1:n.1231+3_1231+4insTCTGTTATTCTACAACAGAAGAATA...
ENST00000505725.1:n.516_517insTCTGTTATTCTACAACAGAAGAATATATTTCATTCTAAATACTGGGATTATTTCTA
ENST00000628286.1:c.*207+3_*207+4insTCTGTTATTCTACAACAGAAGAATATATTTCATTCTAAATACTGGGATTATTTCTA	ENSP00000487317.1:n.*207+3_*207+4insTCTGTTATTCTACAACAGAAGAATA...
NM_017593.3:c.1231+3_1231+4insTCTGTTATTCTACAACAGAAGAATATATTTCATTCTAAATACTGGGATTATTTCTA	NP_060063.2:n.1231+3_1231+4insTCTGTTATTCTACAACAGAAGAATATATTTC...
NM_198892.1:c.1231+3_1231+4insTCTGTTATTCTACAACAGAAGAATATATTTCATTCTAAATACTGGGATTATTTCTA	NP_942595.1:n.1231+3_1231+4insTCTGTTATTCTACAACAGAAGAATATATTTC...
XM_005263117.1:c.1231+3_1231+4insTCTGTTATTCTACAACAGAAGAATATATTTCATTCTAAATACTGGGATTATTTCTA	XP_005263174.1:n.1231+3_1231+4insTCTGTTATTCTACAACAGAAGAATATAT...
XM_011532101.1:c.991+3_991+4insTCTGTTATTCTACAACAGAAGAATATATTTCATTCTAAATACTGGGATTATTTCTA	XP_011530403.1:n.991+3_991+4insTCTGTTATTCTACAACAGAAGAATATATTT...
XM_011532102.1:c.1231+3_1231+4insTCTGTTATTCTACAACAGAAGAATATATTTCATTCTAAATACTGGGATTATTTCTA	XP_011530404.1:n.1231+3_1231+4insTCTGTTATTCTACAACAGAAGAATATAT...
XM_017008381.1:c.991+3_991+4insTCTGTTATTCTACAACAGAAGAATATATTTCATTCTAAATACTGGGATTATTTCTA	XP_016863870.1:n.991+3_991+4insTCTGTTATTCTACAACAGAAGAATATATTT...
XM_017008382.1:c.343+3_343+4insTCTGTTATTCTACAACAGAAGAATATATTTCATTCTAAATACTGGGATTATTTCTA	XP_016863871.1:n.343+3_343+4insTCTGTTATTCTACAACAGAAGAATATATTT...
NM_017593.4:c.1231+3_1231+4insTCTGTTATTCTACAACAGAAGAATATATTTCATTCTAAATACTGGGATTATTTCTA	NP_060063.2:n.1231+3_1231+4insTCTGTTATTCTACAACAGAAGAATATATTTC...
NM_017593.5:c.1231+3_1231+4insTCTGTTATTCTACAACAGAAGAATATATTTCATTCTAAATACTGGGATTATTTCTA	NP_060063.2:n.1231+3_1231+4insTCTGTTATTCTACAACAGAAGAATATATTTC...
NM_198892.2:c.1231+3_1231+4insTCTGTTATTCTACAACAGAAGAATATATTTCATTCTAAATACTGGGATTATTTCTA MANE Select	NP_942595.1:n.1231+3_1231+4insTCTGTTATTCTACAACAGAAGAATATATTTC...