Canonical Allele Identifier: CA7440486

Gene: HERC2

Linked Data

• dbSNP Id: rs775075132
• ExAC: 15:28386994 T / A
• gnomAD v4: 15-28141848-T-A
• MyVariant Identifiers: chr15:g.28386994T>A (hg19) ; chr15:g.28141848T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141848T>A , CM000677.2:g.28141848T>A	GRCh38
NC_000015.9:g.28386994T>A , CM000677.1:g.28386994T>A	GRCh37
NC_000015.8:g.26060589T>A	NCBI36
NG_016355.1:g.185302A>T

Transcript Alleles

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