Canonical Allele Identifier: CA1864362509
Gene: BICD2 HGNC NCBI

Linked Data

dbSNP Id: rs1853413118
gnomAD v4: 9-92719486-CCTT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92719489_92719491del , CM000671.2:g.92719489_92719491del GRCh38
NC_000009.11:g.95481771_95481773del , CM000671.1:g.95481771_95481773del GRCh37
NC_000009.10:g.94521592_94521594del NCBI36
NG_033908.1:g.50313_50315del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.1156_1158del MANE Select ENSP00000349351.6:p.Lys386del
ENST00000356884.10:c.1156_1158del ENSP00000349351.6:p.Lys386del
ENST00000375512.3:c.1156_1158del ENSP00000364662.3:p.Lys386del
NM_001003800.1:c.1156_1158del NP_001003800.1:p.Lys386del
NM_015250.3:c.1156_1158del NP_056065.1:p.Lys386del
XM_017014551.1:c.1237_1239del XP_016870040.1:p.Lys413del
NM_001003800.2:c.1156_1158del MANE Select NP_001003800.1:p.Lys386del
NM_015250.4:c.1156_1158del NP_056065.1:p.Lys386del
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