Canonical Allele Identifier: CA374040203
Gene: BICD2 HGNC NCBI

Linked Data

dbSNP Id: rs1356671689
gnomAD v2: 9-95481764-G-A
gnomAD v3: 9-92719482-G-A
gnomAD v4: 9-92719482-G-A
MyVariant Identifiers: chr9:g.95481764G>A (hg19) chr9:g.92719482G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92719482G>A , CM000671.2:g.92719482G>A GRCh38
NC_000009.11:g.95481764G>A , CM000671.1:g.95481764G>A GRCh37
NC_000009.10:g.94521585G>A NCBI36
NG_033908.1:g.50320C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.1163C>T MANE Select ENSP00000349351.6:p.Thr388Ile
ENST00000356884.10:c.1163C>T ENSP00000349351.6:p.Thr388Ile
ENST00000375512.3:c.1163C>T ENSP00000364662.3:p.Thr388Ile
NM_001003800.1:c.1163C>T NP_001003800.1:p.Thr388Ile
NM_015250.3:c.1163C>T NP_056065.1:p.Thr388Ile
XM_017014551.1:c.1244C>T XP_016870040.1:p.Thr415Ile
NM_001003800.2:c.1163C>T MANE Select NP_001003800.1:p.Thr388Ile
NM_015250.4:c.1163C>T NP_056065.1:p.Thr388Ile
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Search 100 bp 3'