Canonical Allele Identifier: CA1126797438
Gene: BICD2 HGNC NCBI

Linked Data

gnomAD v3: 9-92719387-CAT-C
gnomAD v4: 9-92719387-CAT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92719388_92719389del , CM000671.2:g.92719388_92719389del GRCh38
NC_000009.11:g.95481670_95481671del , CM000671.1:g.95481670_95481671del GRCh37
NC_000009.10:g.94521491_94521492del NCBI36
NG_033908.1:g.50413_50414del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.1256_1257del MANE Select ENSP00000349351.6:p.His419ArgfsTer14
ENST00000356884.10:c.1256_1257del ENSP00000349351.6:p.His419ArgfsTer14
ENST00000375512.3:c.1256_1257del ENSP00000364662.3:p.His419ArgfsTer14
NM_001003800.1:c.1256_1257del NP_001003800.1:p.His419ArgfsTer14
NM_015250.3:c.1256_1257del NP_056065.1:p.His419ArgfsTer14
XM_017014551.1:c.1337_1338del XP_016870040.1:p.His446ArgfsTer14
NM_001003800.2:c.1256_1257del MANE Select NP_001003800.1:p.His419ArgfsTer14
NM_015250.4:c.1256_1257del NP_056065.1:p.His419ArgfsTer14
Search 100 bp 5'
Search 100 bp 3'