Canonical Allele Identifier: CA2690686264
Gene: BICD2 HGNC NCBI

Linked Data

gnomAD v4: 9-92718559-CAG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92718560_92718561del , CM000671.2:g.92718560_92718561del GRCh38
NC_000009.11:g.95480842_95480843del , CM000671.1:g.95480842_95480843del GRCh37
NC_000009.10:g.94520663_94520664del NCBI36
NG_033908.1:g.51241_51242del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.2084_2085del MANE Select ENSP00000349351.6:p.Thr695SerfsTer21
ENST00000356884.10:c.2084_2085del ENSP00000349351.6:p.Thr695SerfsTer21
ENST00000375512.3:c.2084_2085del ENSP00000364662.3:p.Thr695SerfsTer21
NM_001003800.1:c.2084_2085del NP_001003800.1:p.Thr695SerfsTer21
NM_015250.3:c.2084_2085del NP_056065.1:p.Thr695SerfsTer21
XM_017014551.1:c.2165_2166del XP_016870040.1:p.Thr722SerfsTer21
NM_001003800.2:c.2084_2085del MANE Select NP_001003800.1:p.Thr695SerfsTer21
NM_015250.4:c.2084_2085del NP_056065.1:p.Thr695SerfsTer21
Search 100 bp 5'
Search 100 bp 3'