Canonical Allele Identifier: CA5126501
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2151844
ClinVar RCV Id: RCV003078994
dbSNP Id: rs753160316
ExAC: 9:95481209 G / C
gnomAD v2: 9-95481209-G-C
gnomAD v4: 9-92718927-G-C
MyVariant Identifiers: chr9:g.95481209G>C (hg19) chr9:g.92718927G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92718927G>C , CM000671.2:g.92718927G>C GRCh38
NC_000009.11:g.95481209G>C , CM000671.1:g.95481209G>C GRCh37
NC_000009.10:g.94521030G>C NCBI36
NG_033908.1:g.50875C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000356884.11:c.1718C>G MANE Select ENSP00000349351.6:p.Thr573Ser
ENST00000356884.10:c.1718C>G ENSP00000349351.6:p.Thr573Ser
ENST00000375512.3:c.1718C>G ENSP00000364662.3:p.Thr573Ser
NM_001003800.1:c.1718C>G NP_001003800.1:p.Thr573Ser
NM_015250.3:c.1718C>G NP_056065.1:p.Thr573Ser
XM_017014551.1:c.1799C>G XP_016870040.1:p.Thr600Ser
NM_001003800.2:c.1718C>G MANE Select NP_001003800.1:p.Thr573Ser
NM_015250.4:c.1718C>G NP_056065.1:p.Thr573Ser
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