Canonical Allele Identifier: CA5126521
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 582447
ClinVar RCV Id: RCV000706519
dbSNP Id: rs754018322
ExAC: 9:95481278 T / C
gnomAD v2: 9-95481278-T-C
gnomAD v4: 9-92718996-T-C
MyVariant Identifiers: chr9:g.95481278T>C (hg19) chr9:g.92718996T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92718996T>C , CM000671.2:g.92718996T>C GRCh38
NC_000009.11:g.95481278T>C , CM000671.1:g.95481278T>C GRCh37
NC_000009.10:g.94521099T>C NCBI36
NG_033908.1:g.50806A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000356884.11:c.1649A>G MANE Select ENSP00000349351.6:p.Asn550Ser
ENST00000356884.10:c.1649A>G ENSP00000349351.6:p.Asn550Ser
ENST00000375512.3:c.1649A>G ENSP00000364662.3:p.Asn550Ser
NM_001003800.1:c.1649A>G NP_001003800.1:p.Asn550Ser
NM_015250.3:c.1649A>G NP_056065.1:p.Asn550Ser
XM_017014551.1:c.1730A>G XP_016870040.1:p.Asn577Ser
NM_001003800.2:c.1649A>G MANE Select NP_001003800.1:p.Asn550Ser
NM_015250.4:c.1649A>G NP_056065.1:p.Asn550Ser
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Search 100 bp 3'