Canonical Allele Identifier: CA374040232
Gene: BICD2 HGNC NCBI

Linked Data

dbSNP Id: rs1331535725
gnomAD v2: 9-95481768-C-A
gnomAD v4: 9-92719486-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92719486C>A , CM000671.2:g.92719486C>A GRCh38
NC_000009.11:g.95481768C>A , CM000671.1:g.95481768C>A GRCh37
NC_000009.10:g.94521589C>A NCBI36
NG_033908.1:g.50316G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.1159G>T MANE Select ENSP00000349351.6:p.Val387Leu
ENST00000356884.10:c.1159G>T ENSP00000349351.6:p.Val387Leu
ENST00000375512.3:c.1159G>T ENSP00000364662.3:p.Val387Leu
NM_001003800.1:c.1159G>T NP_001003800.1:p.Val387Leu
NM_015250.3:c.1159G>T NP_056065.1:p.Val387Leu
XM_017014551.1:c.1240G>T XP_016870040.1:p.Val414Leu
NM_001003800.2:c.1159G>T MANE Select NP_001003800.1:p.Val387Leu
NM_015250.4:c.1159G>T NP_056065.1:p.Val387Leu