Canonical Allele Identifier: CA5126459

Gene: BICD2

Linked Data

• dbSNP Id: rs756825784
• ExAC: 9:95481030 TA / T
• gnomAD v2: 9-95481030-TA-T
• gnomAD v4: 9-92718748-TA-T
• MyVariant Identifiers: chr9:g.95481031del (hg19) ; chr9:g.92718749del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92718749del , CM000671.2:g.92718749del	GRCh38
NC_000009.11:g.95481031del , CM000671.1:g.95481031del	GRCh37
NC_000009.10:g.94520852del	NCBI36
NG_033908.1:g.51053del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356884.11:c.1896del MANE Select	ENSP00000349351.6:p.Ile633SerfsTer?
ENST00000356884.10:c.1896del	ENSP00000349351.6:p.Ile633SerfsTer?
ENST00000375512.3:c.1896del	ENSP00000364662.3:p.Ile633SerfsTer?
NM_001003800.1:c.1896del	NP_001003800.1:p.Ile633SerfsTer?
NM_015250.3:c.1896del	NP_056065.1:p.Ile633SerfsTer?
XM_017014551.1:c.1977del	XP_016870040.1:p.Ile660SerfsTer?
NM_001003800.2:c.1896del MANE Select	NP_001003800.1:p.Ile633SerfsTer?
NM_015250.4:c.1896del	NP_056065.1:p.Ile633SerfsTer?