Canonical Allele Identifier: CA374035577
Gene: BICD2 HGNC NCBI

Linked Data

dbSNP Id: rs1853385677
gnomAD v4: 9-92718826-G-C
MyVariant Identifiers: chr9:g.95481108G>C (hg19) chr9:g.92718826G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92718826G>C , CM000671.2:g.92718826G>C GRCh38
NC_000009.11:g.95481108G>C , CM000671.1:g.95481108G>C GRCh37
NC_000009.10:g.94520929G>C NCBI36
NG_033908.1:g.50976C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000356884.11:c.1819C>G MANE Select ENSP00000349351.6:p.Pro607Ala
ENST00000356884.10:c.1819C>G ENSP00000349351.6:p.Pro607Ala
ENST00000375512.3:c.1819C>G ENSP00000364662.3:p.Pro607Ala
NM_001003800.1:c.1819C>G NP_001003800.1:p.Pro607Ala
NM_015250.3:c.1819C>G NP_056065.1:p.Pro607Ala
XM_017014551.1:c.1900C>G XP_016870040.1:p.Pro634Ala
NM_001003800.2:c.1819C>G MANE Select NP_001003800.1:p.Pro607Ala
NM_015250.4:c.1819C>G NP_056065.1:p.Pro607Ala
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