Canonical Allele Identifier: CA374034539
Community Standard Title: NM_001003800.2(BICD2):c.1993G>C (p.Val665Leu)
Gene: BICD2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92718652C>G , CM000671.2:g.92718652C>G GRCh38
NC_000009.11:g.95480934C>G , CM000671.1:g.95480934C>G GRCh37
NC_000009.10:g.94520755C>G NCBI36
NG_033908.1:g.51150G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001003800.2:c.1993G>C MANE Select NP_001003800.1:p.Val665Leu
ENST00000356884.11:c.1993G>C MANE Select ENSP00000349351.6:p.Val665Leu
NM_001003800.1:c.1993G>C NP_001003800.1:p.Val665Leu
NM_015250.3:c.1993G>C NP_056065.1:p.Val665Leu
NM_015250.4:c.1993G>C NP_056065.1:p.Val665Leu
ENST00000356884.10:c.1993G>C ENSP00000349351.6:p.Val665Leu
ENST00000375512.3:c.1993G>C ENSP00000364662.3:p.Val665Leu
XM_017014551.1:c.2074G>C XP_016870040.1:p.Val692Leu
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