Canonical Allele Identifier: CA374036272
Gene: BICD2 HGNC NCBI

Linked Data

gnomAD v4: 9-92718939-G-T
MyVariant Identifiers: chr9:g.95481221G>T (hg19) chr9:g.92718939G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92718939G>T , CM000671.2:g.92718939G>T GRCh38
NC_000009.11:g.95481221G>T , CM000671.1:g.95481221G>T GRCh37
NC_000009.10:g.94521042G>T NCBI36
NG_033908.1:g.50863C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000356884.11:c.1706C>A MANE Select ENSP00000349351.6:p.Pro569His
ENST00000356884.10:c.1706C>A ENSP00000349351.6:p.Pro569His
ENST00000375512.3:c.1706C>A ENSP00000364662.3:p.Pro569His
NM_001003800.1:c.1706C>A NP_001003800.1:p.Pro569His
NM_015250.3:c.1706C>A NP_056065.1:p.Pro569His
XM_017014551.1:c.1787C>A XP_016870040.1:p.Pro596His
NM_001003800.2:c.1706C>A MANE Select NP_001003800.1:p.Pro569His
NM_015250.4:c.1706C>A NP_056065.1:p.Pro569His
Search 100 bp 5'
Search 100 bp 3'