Canonical Allele Identifier: CA711723205
Gene: HERC2 HGNC NCBI

Linked Data

dbSNP Id: rs1277181143

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141853A>G , CM000677.2:g.28141853A>G GRCh38
NC_000015.9:g.28386999A>G , CM000677.1:g.28386999A>G GRCh37
NC_000015.8:g.26060594A>G NCBI36
NG_016355.1:g.185297T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11701-7T>C MANE Select ENSP00000261609.8:n.11701-7T>C
ENST00000650509.1:c.3412-7T>C ENSP00000496936.1:n.3412-7T>C
ENST00000261609.11:c.11701-7T>C ENSP00000261609.7:n.11701-7T>C
ENST00000564519.1:n.216-7T>C
NM_004667.5:c.11701-7T>C NP_004658.3:n.11701-7T>C
XM_005268276.3:c.11587-7T>C XP_005268333.1:n.11587-7T>C
XM_005268277.3:c.11587-7T>C XP_005268334.1:n.11587-7T>C
XM_006720726.2:c.11686-7T>C XP_006720789.1:n.11686-7T>C
XM_006720727.2:c.11443-7T>C XP_006720790.1:n.11443-7T>C
XM_011522131.1:c.11218-7T>C XP_011520433.1:n.11218-7T>C
XM_011522132.1:c.9217-7T>C XP_011520434.1:n.9217-7T>C
XM_011522133.1:c.8446-7T>C XP_011520435.1:n.8446-7T>C
XM_011522134.1:c.5818-7T>C XP_011520436.1:n.5818-7T>C
XM_005268276.5:c.11587-7T>C XP_005268333.1:n.11587-7T>C
XM_006720726.3:c.11686-7T>C XP_006720789.1:n.11686-7T>C
XM_006720727.3:c.11443-7T>C XP_006720790.1:n.11443-7T>C
XM_017022695.1:c.11587-7T>C XP_016878184.1:n.11587-7T>C
XM_017022696.1:c.11587-7T>C XP_016878185.1:n.11587-7T>C
XM_017022697.1:c.4867-7T>C XP_016878186.1:n.4867-7T>C
XM_017022698.1:c.4867-7T>C XP_016878187.1:n.4867-7T>C
NM_004667.6:c.11701-7T>C MANE Select NP_004658.3:n.11701-7T>C