Canonical Allele Identifier: CA16043488
Gene: HERC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 374155
ClinVar RCV Id: RCV000414953
dbSNP Id: rs1057518934
MyVariant Identifiers: chr15:g.28456241del (hg19) chr15:g.28211095del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28211096del , CM000677.2:g.28211096del GRCh38
NC_000015.9:g.28456242del , CM000677.1:g.28456242del GRCh37
NC_000015.8:g.26129837del NCBI36
NG_016355.1:g.116055del

Transcript Alleles

HGVS Amino-acid change
ENST00000261609.13:c.6976del MANE Select ENSP00000261609.8:p.Leu2326Ter
ENST00000261609.11:c.6976del ENSP00000261609.7:p.Leu2326Ter
NM_004667.5:c.6976del NP_004658.3:p.Leu2326Ter
XM_005268276.3:c.6862del XP_005268333.1:p.Leu2288Ter
XM_005268277.3:c.6862del XP_005268334.1:p.Leu2288Ter
XM_006720726.2:c.6961del XP_006720789.1:p.Leu2321Ter
XM_006720727.2:c.6718del XP_006720790.1:p.Leu2240Ter
XM_011522131.1:c.6493del XP_011520433.1:p.Leu2165Ter
XM_011522132.1:c.4492del XP_011520434.1:p.Leu1498Ter
XM_011522133.1:c.3721del XP_011520435.1:p.Leu1241Ter
XM_011522134.1:c.1093del XP_011520436.1:p.Leu365Ter
XM_011522135.1:c.6976del XP_011520437.1:p.Leu2326Ter
XM_011522136.1:c.6976del XP_011520438.1:p.Leu2326Ter
XM_011522137.1:c.6976del XP_011520439.1:p.Leu2326Ter
XR_931930.1:n.7105del
XR_931931.1:n.7105del
XM_005268276.5:c.6862del XP_005268333.1:p.Leu2288Ter
XM_006720726.3:c.6961del XP_006720789.1:p.Leu2321Ter
XM_006720727.3:c.6718del XP_006720790.1:p.Leu2240Ter
XM_017022695.1:c.6862del XP_016878184.1:p.Leu2288Ter
XM_017022696.1:c.6862del XP_016878185.1:p.Leu2288Ter
XM_017022697.1:c.142del XP_016878186.1:p.Leu48Ter
XM_017022698.1:c.142del XP_016878187.1:p.Leu48Ter
XR_001751410.1:n.7106del
XR_931930.2:n.7106del
NM_004667.6:c.6976del MANE Select NP_004658.3:p.Leu2326Ter
Search 100 bp 5'
Search 100 bp 3'