Canonical Allele Identifier: CA616712385

Gene: HERC2

Linked Data

• dbSNP Id: rs1336657508
• gnomAD v2: 15-28387002-A-AT
• gnomAD v3: 15-28141856-A-AT
• gnomAD v4: 15-28141856-A-AT
• MyVariant Identifiers: chr15:g.28387002_28387003insT (hg19) ; chr15:g.28141856_28141857insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141858dup , CM000677.2:g.28141858dup	GRCh38
NC_000015.9:g.28387004dup , CM000677.1:g.28387004dup	GRCh37
NC_000015.8:g.26060599dup	NCBI36
NG_016355.1:g.185293dup

Transcript Alleles

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