Canonical Allele Identifier: CA2166479922
Gene: HERC2 HGNC NCBI

Linked Data

dbSNP Id: rs1891226568

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141562_28141563del , CM000677.2:g.28141562_28141563del GRCh38
NC_000015.9:g.28386708_28386709del , CM000677.1:g.28386708_28386709del GRCh37
NC_000015.8:g.26060303_26060304del NCBI36
NG_016355.1:g.185587_185588del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11884_11885del MANE Select ENSP00000261609.8:p.Arg3962GlyfsTer7
ENST00000650509.1:c.3595_3596del ENSP00000496936.1:p.Arg1199GlyfsTer7
ENST00000261609.11:c.11884_11885del ENSP00000261609.7:p.Arg3962GlyfsTer7
NM_004667.5:c.11884_11885del NP_004658.3:p.Arg3962GlyfsTer7
XM_005268276.3:c.11770_11771del XP_005268333.1:p.Arg3924GlyfsTer7
XM_005268277.3:c.11770_11771del XP_005268334.1:p.Arg3924GlyfsTer7
XM_006720726.2:c.11869_11870del XP_006720789.1:p.Arg3957GlyfsTer7
XM_006720727.2:c.11626_11627del XP_006720790.1:p.Arg3876GlyfsTer7
XM_011522131.1:c.11401_11402del XP_011520433.1:p.Arg3801GlyfsTer7
XM_011522132.1:c.9400_9401del XP_011520434.1:p.Arg3134GlyfsTer7
XM_011522133.1:c.8629_8630del XP_011520435.1:p.Arg2877GlyfsTer7
XM_011522134.1:c.6001_6002del XP_011520436.1:p.Arg2001GlyfsTer7
XM_005268276.5:c.11770_11771del XP_005268333.1:p.Arg3924GlyfsTer7
XM_006720726.3:c.11869_11870del XP_006720789.1:p.Arg3957GlyfsTer7
XM_006720727.3:c.11626_11627del XP_006720790.1:p.Arg3876GlyfsTer7
XM_017022695.1:c.11770_11771del XP_016878184.1:p.Arg3924GlyfsTer7
XM_017022696.1:c.11770_11771del XP_016878185.1:p.Arg3924GlyfsTer7
XM_017022697.1:c.5050_5051del XP_016878186.1:p.Arg1684GlyfsTer7
XM_017022698.1:c.5050_5051del XP_016878187.1:p.Arg1684GlyfsTer7
NM_004667.6:c.11884_11885del MANE Select NP_004658.3:p.Arg3962GlyfsTer7