Canonical Allele Identifier: CA5126617
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 474255
ClinVar RCV Id: RCV000560330 RCV002341446 RCV001697379 RCV003905444
dbSNP Id: rs144427583
ExAC: 9:95481748 A / T
gnomAD v2: 9-95481748-A-T
gnomAD v3: 9-92719466-A-T
gnomAD v4: 9-92719466-A-T
MyVariant Identifiers: chr9:g.95481748A>T (hg19) chr9:g.92719466A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92719466A>T , CM000671.2:g.92719466A>T GRCh38
NC_000009.11:g.95481748A>T , CM000671.1:g.95481748A>T GRCh37
NC_000009.10:g.94521569A>T NCBI36
NG_033908.1:g.50336T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.1179T>A MANE Select ENSP00000349351.6:p.Asn393Lys
ENST00000356884.10:c.1179T>A ENSP00000349351.6:p.Asn393Lys
ENST00000375512.3:c.1179T>A ENSP00000364662.3:p.Asn393Lys
NM_001003800.1:c.1179T>A NP_001003800.1:p.Asn393Lys
NM_015250.3:c.1179T>A NP_056065.1:p.Asn393Lys
XM_017014551.1:c.1260T>A XP_016870040.1:p.Asn420Lys
NM_001003800.2:c.1179T>A MANE Select NP_001003800.1:p.Asn393Lys
NM_015250.4:c.1179T>A NP_056065.1:p.Asn393Lys
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