Canonical Allele Identifier: CA466029963
Gene: BICD2 HGNC NCBI

Linked Data

dbSNP Id: rs1444368279
gnomAD v2: 9-95480842-A-G
gnomAD v4: 9-92718560-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92718560A>G , CM000671.2:g.92718560A>G GRCh38
NC_000009.11:g.95480842A>G , CM000671.1:g.95480842A>G GRCh37
NC_000009.10:g.94520663A>G NCBI36
NG_033908.1:g.51242T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.2085T>C MANE Select ENSP00000349351.6:p.Thr695=
ENST00000356884.10:c.2085T>C ENSP00000349351.6:p.Thr695=
ENST00000375512.3:c.2085T>C ENSP00000364662.3:p.Thr695=
NM_001003800.1:c.2085T>C NP_001003800.1:p.Thr695=
NM_015250.3:c.2085T>C NP_056065.1:p.Thr695=
XM_017014551.1:c.2166T>C XP_016870040.1:p.Thr722=
NM_001003800.2:c.2085T>C MANE Select NP_001003800.1:p.Thr695=
NM_015250.4:c.2085T>C NP_056065.1:p.Thr695=