Canonical Allele Identifier: CA374036229
Gene: BICD2 HGNC NCBI

Linked Data

gnomAD v4: 9-92718928-T-G
MyVariant Identifiers: chr9:g.95481210T>G (hg19) chr9:g.92718928T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92718928T>G , CM000671.2:g.92718928T>G GRCh38
NC_000009.11:g.95481210T>G , CM000671.1:g.95481210T>G GRCh37
NC_000009.10:g.94521031T>G NCBI36
NG_033908.1:g.50874A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.1717A>C MANE Select ENSP00000349351.6:p.Thr573Pro
ENST00000356884.10:c.1717A>C ENSP00000349351.6:p.Thr573Pro
ENST00000375512.3:c.1717A>C ENSP00000364662.3:p.Thr573Pro
NM_001003800.1:c.1717A>C NP_001003800.1:p.Thr573Pro
NM_015250.3:c.1717A>C NP_056065.1:p.Thr573Pro
XM_017014551.1:c.1798A>C XP_016870040.1:p.Thr600Pro
NM_001003800.2:c.1717A>C MANE Select NP_001003800.1:p.Thr573Pro
NM_015250.4:c.1717A>C NP_056065.1:p.Thr573Pro
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