Canonical Allele Identifier: CA374040191
Gene: BICD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92719477G>C , CM000671.2:g.92719477G>C GRCh38
NC_000009.11:g.95481759G>C , CM000671.1:g.95481759G>C GRCh37
NC_000009.10:g.94521580G>C NCBI36
NG_033908.1:g.50325C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.1168C>G MANE Select ENSP00000349351.6:p.Leu390Val
ENST00000356884.10:c.1168C>G ENSP00000349351.6:p.Leu390Val
ENST00000375512.3:c.1168C>G ENSP00000364662.3:p.Leu390Val
NM_001003800.1:c.1168C>G NP_001003800.1:p.Leu390Val
NM_015250.3:c.1168C>G NP_056065.1:p.Leu390Val
XM_017014551.1:c.1249C>G XP_016870040.1:p.Leu417Val
NM_001003800.2:c.1168C>G MANE Select NP_001003800.1:p.Leu390Val
NM_015250.4:c.1168C>G NP_056065.1:p.Leu390Val