Canonical Allele Identifier: CA5126508
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1232519
ClinVar RCV Id: RCV001620867
dbSNP Id: rs550312355
ExAC: 9:95481230 C / A
gnomAD v2: 9-95481230-C-A
gnomAD v4: 9-92718948-C-A
MyVariant Identifiers: chr9:g.95481230C>A (hg19) chr9:g.92718948C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92718948C>A , CM000671.2:g.92718948C>A GRCh38
NC_000009.11:g.95481230C>A , CM000671.1:g.95481230C>A GRCh37
NC_000009.10:g.94521051C>A NCBI36
NG_033908.1:g.50854G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000356884.11:c.1697G>T MANE Select ENSP00000349351.6:p.Arg566Leu
ENST00000356884.10:c.1697G>T ENSP00000349351.6:p.Arg566Leu
ENST00000375512.3:c.1697G>T ENSP00000364662.3:p.Arg566Leu
NM_001003800.1:c.1697G>T NP_001003800.1:p.Arg566Leu
NM_015250.3:c.1697G>T NP_056065.1:p.Arg566Leu
XM_017014551.1:c.1778G>T XP_016870040.1:p.Arg593Leu
NM_001003800.2:c.1697G>T MANE Select NP_001003800.1:p.Arg566Leu
NM_015250.4:c.1697G>T NP_056065.1:p.Arg566Leu
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