Canonical Allele Identifier: CA466343058
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 767354
ClinVar RCV Id: RCV001434043
dbSNP Id: rs1587668638
gnomAD v4: 9-92718926-G-T
MyVariant Identifiers: chr9:g.95481208G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92718926G>T , CM000671.2:g.92718926G>T GRCh38
NC_000009.11:g.95481208G>T , CM000671.1:g.95481208G>T GRCh37
NC_000009.10:g.94521029G>T NCBI36
NG_033908.1:g.50876C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000356884.11:c.1719C>A MANE Select ENSP00000349351.6:p.Thr573=
ENST00000356884.10:c.1719C>A ENSP00000349351.6:p.Thr573=
ENST00000375512.3:c.1719C>A ENSP00000364662.3:p.Thr573=
NM_001003800.1:c.1719C>A NP_001003800.1:p.Thr573=
NM_015250.3:c.1719C>A NP_056065.1:p.Thr573=
XM_017014551.1:c.1800C>A XP_016870040.1:p.Thr600=
NM_001003800.2:c.1719C>A MANE Select NP_001003800.1:p.Thr573=
NM_015250.4:c.1719C>A NP_056065.1:p.Thr573=
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