Canonical Allele Identifier: CA466342826
Gene: BICD2 HGNC NCBI

Linked Data

dbSNP Id: rs1170152388
gnomAD v2: 9-95480968-G-T
gnomAD v3: 9-92718686-G-T
gnomAD v4: 9-92718686-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92718686G>T , CM000671.2:g.92718686G>T GRCh38
NC_000009.11:g.95480968G>T , CM000671.1:g.95480968G>T GRCh37
NC_000009.10:g.94520789G>T NCBI36
NG_033908.1:g.51116C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.1959C>A MANE Select ENSP00000349351.6:p.Arg653=
ENST00000356884.10:c.1959C>A ENSP00000349351.6:p.Arg653=
ENST00000375512.3:c.1959C>A ENSP00000364662.3:p.Arg653=
NM_001003800.1:c.1959C>A NP_001003800.1:p.Arg653=
NM_015250.3:c.1959C>A NP_056065.1:p.Arg653=
XM_017014551.1:c.2040C>A XP_016870040.1:p.Arg680=
NM_001003800.2:c.1959C>A MANE Select NP_001003800.1:p.Arg653=
NM_015250.4:c.1959C>A NP_056065.1:p.Arg653=