Canonical Allele Identifier: CA2580080668
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2430732
ClinVar RCV Id: RCV003129265
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92718588_92718599dup , CM000671.2:g.92718588_92718599dup GRCh38
NC_000009.11:g.95480870_95480881dup , CM000671.1:g.95480870_95480881dup GRCh37
NC_000009.10:g.94520691_94520702dup NCBI36
NG_033908.1:g.51205_51216dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.2048_2059dup MANE Select ENSP00000349351.6:p.Lys686_Arg687insLeuSerThrLys
ENST00000356884.10:c.2048_2059dup ENSP00000349351.6:p.Lys686_Arg687insLeuSerThrLys
ENST00000375512.3:c.2048_2059dup ENSP00000364662.3:p.Lys686_Arg687insLeuSerThrLys
NM_001003800.1:c.2048_2059dup NP_001003800.1:p.Lys686_Arg687insLeuSerThrLys
NM_015250.3:c.2048_2059dup NP_056065.1:p.Lys686_Arg687insLeuSerThrLys
XM_017014551.1:c.2129_2140dup XP_016870040.1:p.Lys713_Arg714insLeuSerThrLys
NM_001003800.2:c.2048_2059dup MANE Select NP_001003800.1:p.Lys686_Arg687insLeuSerThrLys
NM_015250.4:c.2048_2059dup NP_056065.1:p.Lys686_Arg687insLeuSerThrLys
Search 100 bp 5'
Search 100 bp 3'