Canonical Allele Identifier: CA466342867
Gene: BICD2 HGNC NCBI

Linked Data

dbSNP Id: rs201930889
gnomAD v3: 9-92718713-G-C
gnomAD v4: 9-92718713-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92718713G>C , CM000671.2:g.92718713G>C GRCh38
NC_000009.11:g.95480995G>C , CM000671.1:g.95480995G>C GRCh37
NC_000009.10:g.94520816G>C NCBI36
NG_033908.1:g.51089C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.1932C>G MANE Select ENSP00000349351.6:p.Ala644=
ENST00000356884.10:c.1932C>G ENSP00000349351.6:p.Ala644=
ENST00000375512.3:c.1932C>G ENSP00000364662.3:p.Ala644=
NM_001003800.1:c.1932C>G NP_001003800.1:p.Ala644=
NM_015250.3:c.1932C>G NP_056065.1:p.Ala644=
XM_017014551.1:c.2013C>G XP_016870040.1:p.Ala671=
NM_001003800.2:c.1932C>G MANE Select NP_001003800.1:p.Ala644=
NM_015250.4:c.1932C>G NP_056065.1:p.Ala644=