Canonical Allele Identifier: CA374040153
Gene: BICD2 HGNC NCBI

Linked Data

gnomAD v4: 9-92719471-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92719471C>G , CM000671.2:g.92719471C>G GRCh38
NC_000009.11:g.95481753C>G , CM000671.1:g.95481753C>G GRCh37
NC_000009.10:g.94521574C>G NCBI36
NG_033908.1:g.50331G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.1174G>C MANE Select ENSP00000349351.6:p.Glu392Gln
ENST00000356884.10:c.1174G>C ENSP00000349351.6:p.Glu392Gln
ENST00000375512.3:c.1174G>C ENSP00000364662.3:p.Glu392Gln
NM_001003800.1:c.1174G>C NP_001003800.1:p.Glu392Gln
NM_015250.3:c.1174G>C NP_056065.1:p.Glu392Gln
XM_017014551.1:c.1255G>C XP_016870040.1:p.Glu419Gln
NM_001003800.2:c.1174G>C MANE Select NP_001003800.1:p.Glu392Gln
NM_015250.4:c.1174G>C NP_056065.1:p.Glu392Gln