Canonical Allele Identifier: CA374034095
Gene: BICD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92718597A>T , CM000671.2:g.92718597A>T GRCh38
NC_000009.11:g.95480879A>T , CM000671.1:g.95480879A>T GRCh37
NC_000009.10:g.94520700A>T NCBI36
NG_033908.1:g.51205T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.2048T>A MANE Select ENSP00000349351.6:p.Leu683His
ENST00000356884.10:c.2048T>A ENSP00000349351.6:p.Leu683His
ENST00000375512.3:c.2048T>A ENSP00000364662.3:p.Leu683His
NM_001003800.1:c.2048T>A NP_001003800.1:p.Leu683His
NM_015250.3:c.2048T>A NP_056065.1:p.Leu683His
XM_017014551.1:c.2129T>A XP_016870040.1:p.Leu710His
NM_001003800.2:c.2048T>A MANE Select NP_001003800.1:p.Leu683His
NM_015250.4:c.2048T>A NP_056065.1:p.Leu683His