Canonical Allele Identifier: CA5126543
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 474259
ClinVar RCV Id: RCV000549761
dbSNP Id: rs142985475
ExAC: 9:95481446 T / C
gnomAD v2: 9-95481446-T-C
gnomAD v3: 9-92719164-T-C
gnomAD v4: 9-92719164-T-C
MyVariant Identifiers: chr9:g.95481446T>C (hg19) chr9:g.92719164T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92719164T>C , CM000671.2:g.92719164T>C GRCh38
NC_000009.11:g.95481446T>C , CM000671.1:g.95481446T>C GRCh37
NC_000009.10:g.94521267T>C NCBI36
NG_033908.1:g.50638A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000356884.11:c.1481A>G MANE Select ENSP00000349351.6:p.Gln494Arg
ENST00000356884.10:c.1481A>G ENSP00000349351.6:p.Gln494Arg
ENST00000375512.3:c.1481A>G ENSP00000364662.3:p.Gln494Arg
NM_001003800.1:c.1481A>G NP_001003800.1:p.Gln494Arg
NM_015250.3:c.1481A>G NP_056065.1:p.Gln494Arg
XM_017014551.1:c.1562A>G XP_016870040.1:p.Gln521Arg
NM_001003800.2:c.1481A>G MANE Select NP_001003800.1:p.Gln494Arg
NM_015250.4:c.1481A>G NP_056065.1:p.Gln494Arg
Search 100 bp 5'
Search 100 bp 3'