Canonical Allele Identifier: CA2580080665
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1773727
ClinVar RCV Id: RCV002389644 RCV003408265
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92719154_92719156delinsTGA , CM000671.2:g.92719154_92719156delinsTGA GRCh38
NC_000009.11:g.95481436_95481438delinsTGA , CM000671.1:g.95481436_95481438delinsTGA GRCh37
NC_000009.10:g.94521257_94521259delinsTGA NCBI36
NG_033908.1:g.50646_50648delinsTCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.1489_1491delinsTCA MANE Select ENSP00000349351.6:p.Glu497Ser
ENST00000356884.10:c.1489_1491delinsTCA ENSP00000349351.6:p.Glu497Ser
ENST00000375512.3:c.1489_1491delinsTCA ENSP00000364662.3:p.Glu497Ser
NM_001003800.1:c.1489_1491delinsTCA NP_001003800.1:p.Glu497Ser
NM_015250.3:c.1489_1491delinsTCA NP_056065.1:p.Glu497Ser
XM_017014551.1:c.1570_1572delinsTCA XP_016870040.1:p.Glu524Ser
NM_001003800.2:c.1489_1491delinsTCA MANE Select NP_001003800.1:p.Glu497Ser
NM_015250.4:c.1489_1491delinsTCA NP_056065.1:p.Glu497Ser
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