Canonical Allele Identifier: CA196340315
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 446893
ClinVar RCV Id: RCV000517205 RCV001066018
dbSNP Id: rs998616675
gnomAD v2: 9-95481205-G-GCTGGTGCGGCCCCCGGGA
gnomAD v3: 9-92718923-G-GCTGGTGCGGCCCCCGGGA
gnomAD v4: 9-92718923-G-GCTGGTGCGGCCCCCGGGA
MyVariant Identifiers: chr9:g.95481206_95481223dup (hg19) chr9:g.95481205_95481206insCTGGTGCGGCCCCCGGGA (hg19) chr9:g.92718924_92718941dup (hg38) chr9:g.92718923_92718924insCTGGTGCGGCCCCCGGGA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92718935_92718952dup , CM000671.2:g.92718935_92718952dup GRCh38
NC_000009.11:g.95481217_95481234dup , CM000671.1:g.95481217_95481234dup GRCh37
NC_000009.10:g.94521038_94521055dup NCBI36
NG_033908.1:g.50861_50878dup

Transcript Alleles

HGVS Amino-acid change
ENST00000356884.11:c.1704_1721dup MANE Select ENSP00000349351.6:p.Ser574_Pro575insProGlyGlyArgThrSer
ENST00000356884.10:c.1704_1721dup ENSP00000349351.6:p.Ser574_Pro575insProGlyGlyArgThrSer
ENST00000375512.3:c.1704_1721dup ENSP00000364662.3:p.Ser574_Pro575insProGlyGlyArgThrSer
NM_001003800.1:c.1704_1721dup NP_001003800.1:p.Ser574_Pro575insProGlyGlyArgThrSer
NM_015250.3:c.1704_1721dup NP_056065.1:p.Ser574_Pro575insProGlyGlyArgThrSer
XM_017014551.1:c.1785_1802dup XP_016870040.1:p.Ser601_Pro602insProGlyGlyArgThrSer
NM_001003800.2:c.1704_1721dup MANE Select NP_001003800.1:p.Ser574_Pro575insProGlyGlyArgThrSer
NM_015250.4:c.1704_1721dup NP_056065.1:p.Ser574_Pro575insProGlyGlyArgThrSer
Search 100 bp 5'
Search 100 bp 3'