Canonical Allele Identifier: CA143972
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 55861
dbSNP Id: rs398123031

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92719122T>G , CM000671.2:g.92719122T>G GRCh38
NC_000009.11:g.95481404T>G , CM000671.1:g.95481404T>G GRCh37
NC_000009.10:g.94521225T>G NCBI36
NG_033908.1:g.50680A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.1523A>C MANE Select ENSP00000349351.6:p.Lys508Thr
ENST00000356884.10:c.1523A>C ENSP00000349351.6:p.Lys508Thr
ENST00000375512.3:c.1523A>C ENSP00000364662.3:p.Lys508Thr
NM_001003800.1:c.1523A>C NP_001003800.1:p.Lys508Thr
NM_015250.3:c.1523A>C NP_056065.1:p.Lys508Thr
XM_017014551.1:c.1604A>C XP_016870040.1:p.Lys535Thr
NM_001003800.2:c.1523A>C MANE Select NP_001003800.1:p.Lys508Thr
NM_015250.4:c.1523A>C NP_056065.1:p.Lys508Thr