Canonical Allele Identifier: CA374036116
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2239336
ClinVar RCV Id: RCV002737279
dbSNP Id: rs1853389361
gnomAD v4: 9-92718900-G-A
MyVariant Identifiers: chr9:g.95481182G>A (hg19) chr9:g.92718900G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92718900G>A , CM000671.2:g.92718900G>A GRCh38
NC_000009.11:g.95481182G>A , CM000671.1:g.95481182G>A GRCh37
NC_000009.10:g.94521003G>A NCBI36
NG_033908.1:g.50902C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.1745C>T MANE Select ENSP00000349351.6:p.Ser582Leu
ENST00000356884.10:c.1745C>T ENSP00000349351.6:p.Ser582Leu
ENST00000375512.3:c.1745C>T ENSP00000364662.3:p.Ser582Leu
NM_001003800.1:c.1745C>T NP_001003800.1:p.Ser582Leu
NM_015250.3:c.1745C>T NP_056065.1:p.Ser582Leu
XM_017014551.1:c.1826C>T XP_016870040.1:p.Ser609Leu
NM_001003800.2:c.1745C>T MANE Select NP_001003800.1:p.Ser582Leu
NM_015250.4:c.1745C>T NP_056065.1:p.Ser582Leu
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