Canonical Allele Identifier: CA466029969
Gene: BICD2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.95480848C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92718566C>T , CM000671.2:g.92718566C>T GRCh38
NC_000009.11:g.95480848C>T , CM000671.1:g.95480848C>T GRCh37
NC_000009.10:g.94520669C>T NCBI36
NG_033908.1:g.51236G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.2079G>A MANE Select ENSP00000349351.6:p.Leu693=
ENST00000356884.10:c.2079G>A ENSP00000349351.6:p.Leu693=
ENST00000375512.3:c.2079G>A ENSP00000364662.3:p.Leu693=
NM_001003800.1:c.2079G>A NP_001003800.1:p.Leu693=
NM_015250.3:c.2079G>A NP_056065.1:p.Leu693=
XM_017014551.1:c.2160G>A XP_016870040.1:p.Leu720=
NM_001003800.2:c.2079G>A MANE Select NP_001003800.1:p.Leu693=
NM_015250.4:c.2079G>A NP_056065.1:p.Leu693=