Canonical Allele Identifier: CA5126472
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 943797
ClinVar RCV Id: RCV001214062 RCV003311964
dbSNP Id: rs150861652
ExAC: 9:95481104 G / A
gnomAD v2: 9-95481104-G-A
gnomAD v3: 9-92718822-G-A
gnomAD v4: 9-92718822-G-A
MyVariant Identifiers: chr9:g.95481104G>A (hg19) chr9:g.92718822G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92718822G>A , CM000671.2:g.92718822G>A GRCh38
NC_000009.11:g.95481104G>A , CM000671.1:g.95481104G>A GRCh37
NC_000009.10:g.94520925G>A NCBI36
NG_033908.1:g.50980C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.1823C>T MANE Select ENSP00000349351.6:p.Ser608Leu
ENST00000356884.10:c.1823C>T ENSP00000349351.6:p.Ser608Leu
ENST00000375512.3:c.1823C>T ENSP00000364662.3:p.Ser608Leu
NM_001003800.1:c.1823C>T NP_001003800.1:p.Ser608Leu
NM_015250.3:c.1823C>T NP_056065.1:p.Ser608Leu
XM_017014551.1:c.1904C>T XP_016870040.1:p.Ser635Leu
NM_001003800.2:c.1823C>T MANE Select NP_001003800.1:p.Ser608Leu
NM_015250.4:c.1823C>T NP_056065.1:p.Ser608Leu
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