Canonical Allele Identifier: CA374034157
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1065430
ClinVar RCV Id: RCV001375944
dbSNP Id: rs2131499599
MyVariant Identifiers: chr9:g.95480891A>C (hg19) chr9:g.92718609A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92718609A>C , CM000671.2:g.92718609A>C GRCh38
NC_000009.11:g.95480891A>C , CM000671.1:g.95480891A>C GRCh37
NC_000009.10:g.94520712A>C NCBI36
NG_033908.1:g.51193T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.2036T>G MANE Select ENSP00000349351.6:p.Leu679Arg
ENST00000356884.10:c.2036T>G ENSP00000349351.6:p.Leu679Arg
ENST00000375512.3:c.2036T>G ENSP00000364662.3:p.Leu679Arg
NM_001003800.1:c.2036T>G NP_001003800.1:p.Leu679Arg
NM_015250.3:c.2036T>G NP_056065.1:p.Leu679Arg
XM_017014551.1:c.2117T>G XP_016870040.1:p.Leu706Arg
NM_001003800.2:c.2036T>G MANE Select NP_001003800.1:p.Leu679Arg
NM_015250.4:c.2036T>G NP_056065.1:p.Leu679Arg
Search 100 bp 5'
Search 100 bp 3'