Canonical Allele Identifier: CA5126419
Gene: BICD2 HGNC NCBI

Linked Data

dbSNP Id: rs777172982
gnomAD v2: 9-95480852-G-A
gnomAD v3: 9-92718570-G-A
gnomAD v4: 9-92718570-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92718570G>A , CM000671.2:g.92718570G>A GRCh38
NC_000009.11:g.95480852G>A , CM000671.1:g.95480852G>A GRCh37
NC_000009.10:g.94520673G>A NCBI36
NG_033908.1:g.51232C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.2075C>T MANE Select ENSP00000349351.6:p.Thr692Met
ENST00000356884.10:c.2075C>T ENSP00000349351.6:p.Thr692Met
ENST00000375512.3:c.2075C>T ENSP00000364662.3:p.Thr692Met
NM_001003800.1:c.2075C>T NP_001003800.1:p.Thr692Met
NM_015250.3:c.2075C>T NP_056065.1:p.Thr692Met
XM_017014551.1:c.2156C>T XP_016870040.1:p.Thr719Met
NM_001003800.2:c.2075C>T MANE Select NP_001003800.1:p.Thr692Met
NM_015250.4:c.2075C>T NP_056065.1:p.Thr692Met