Canonical Allele Identifier: CA5126505
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 723194
ClinVar RCV Id: RCV000896922
dbSNP Id: rs757277531
ExAC: 9:95481213 G / A
gnomAD v2: 9-95481213-G-A
gnomAD v3: 9-92718931-G-A
gnomAD v4: 9-92718931-G-A
MyVariant Identifiers: chr9:g.95481213G>A (hg19) chr9:g.92718931G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92718931G>A , CM000671.2:g.92718931G>A GRCh38
NC_000009.11:g.95481213G>A , CM000671.1:g.95481213G>A GRCh37
NC_000009.10:g.94521034G>A NCBI36
NG_033908.1:g.50871C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000356884.11:c.1714C>T MANE Select ENSP00000349351.6:p.Arg572Cys
ENST00000356884.10:c.1714C>T ENSP00000349351.6:p.Arg572Cys
ENST00000375512.3:c.1714C>T ENSP00000364662.3:p.Arg572Cys
NM_001003800.1:c.1714C>T NP_001003800.1:p.Arg572Cys
NM_015250.3:c.1714C>T NP_056065.1:p.Arg572Cys
XM_017014551.1:c.1795C>T XP_016870040.1:p.Arg599Cys
NM_001003800.2:c.1714C>T MANE Select NP_001003800.1:p.Arg572Cys
NM_015250.4:c.1714C>T NP_056065.1:p.Arg572Cys
Search 100 bp 5'
Search 100 bp 3'