Canonical Allele Identifier: CA374037867
Gene: BICD2 HGNC NCBI

Linked Data

gnomAD v4: 9-92719169-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92719169G>T , CM000671.2:g.92719169G>T GRCh38
NC_000009.11:g.95481451G>T , CM000671.1:g.95481451G>T GRCh37
NC_000009.10:g.94521272G>T NCBI36
NG_033908.1:g.50633C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.1476C>A MANE Select ENSP00000349351.6:p.Ser492Arg
ENST00000356884.10:c.1476C>A ENSP00000349351.6:p.Ser492Arg
ENST00000375512.3:c.1476C>A ENSP00000364662.3:p.Ser492Arg
NM_001003800.1:c.1476C>A NP_001003800.1:p.Ser492Arg
NM_015250.3:c.1476C>A NP_056065.1:p.Ser492Arg
XM_017014551.1:c.1557C>A XP_016870040.1:p.Ser519Arg
NM_001003800.2:c.1476C>A MANE Select NP_001003800.1:p.Ser492Arg
NM_015250.4:c.1476C>A NP_056065.1:p.Ser492Arg