Canonical Allele Identifier: CA466029961
Gene: BICD2 HGNC NCBI

Linked Data

dbSNP Id: rs1444368279
gnomAD v3: 9-92718560-A-C
gnomAD v4: 9-92718560-A-C

Genomic Alleles

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

Transcript Alleles

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