Canonical Allele Identifier: CA5126671
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 390790
ClinVar RCV Id: RCV000427397 RCV000651536 RCV002402206
dbSNP Id: rs77530912
ExAC: 9:95482600 C / T
gnomAD v2: 9-95482600-C-T
gnomAD v3: 9-92720318-C-T
gnomAD v4: 9-92720318-C-T
MyVariant Identifiers: chr9:g.95482600C>T (hg19) chr9:g.92720318C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92720318C>T , CM000671.2:g.92720318C>T GRCh38
NC_000009.11:g.95482600C>T , CM000671.1:g.95482600C>T GRCh37
NC_000009.10:g.94522421C>T NCBI36
NG_033908.1:g.49484G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.1044G>A MANE Select ENSP00000349351.6:p.Leu348=
ENST00000356884.10:c.1044G>A ENSP00000349351.6:p.Leu348=
ENST00000375512.3:c.1044G>A ENSP00000364662.3:p.Leu348=
NM_001003800.1:c.1044G>A NP_001003800.1:p.Leu348=
NM_015250.3:c.1044G>A NP_056065.1:p.Leu348=
XM_017014551.1:c.1125G>A XP_016870040.1:p.Leu375=
NM_001003800.2:c.1044G>A MANE Select NP_001003800.1:p.Leu348=
NM_015250.4:c.1044G>A NP_056065.1:p.Leu348=
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Search 100 bp 3'