Canonical Allele Identifier: CA391381877

Gene: HERC2

Linked Data

• MyVariant Identifiers: chr15:g.28386913C>A (hg19) ; chr15:g.28141767C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141767C>A , CM000677.2:g.28141767C>A	GRCh38
NC_000015.9:g.28386913C>A , CM000677.1:g.28386913C>A	GRCh37
NC_000015.8:g.26060508C>A	NCBI36
NG_016355.1:g.185383G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11780G>T MANE Select	ENSP00000261609.8:p.Arg3927Ile
ENST00000650509.1:c.3491G>T	ENSP00000496936.1:p.Arg1164Ile
ENST00000261609.11:c.11780G>T	ENSP00000261609.7:p.Arg3927Ile
ENST00000564519.1:n.295G>T
NM_004667.5:c.11780G>T	NP_004658.3:p.Arg3927Ile
XM_005268276.3:c.11666G>T	XP_005268333.1:p.Arg3889Ile
XM_005268277.3:c.11666G>T	XP_005268334.1:p.Arg3889Ile
XM_006720726.2:c.11765G>T	XP_006720789.1:p.Arg3922Ile
XM_006720727.2:c.11522G>T	XP_006720790.1:p.Arg3841Ile
XM_011522131.1:c.11297G>T	XP_011520433.1:p.Arg3766Ile
XM_011522132.1:c.9296G>T	XP_011520434.1:p.Arg3099Ile
XM_011522133.1:c.8525G>T	XP_011520435.1:p.Arg2842Ile
XM_011522134.1:c.5897G>T	XP_011520436.1:p.Arg1966Ile
XM_005268276.5:c.11666G>T	XP_005268333.1:p.Arg3889Ile
XM_006720726.3:c.11765G>T	XP_006720789.1:p.Arg3922Ile
XM_006720727.3:c.11522G>T	XP_006720790.1:p.Arg3841Ile
XM_017022695.1:c.11666G>T	XP_016878184.1:p.Arg3889Ile
XM_017022696.1:c.11666G>T	XP_016878185.1:p.Arg3889Ile
XM_017022697.1:c.4946G>T	XP_016878186.1:p.Arg1649Ile
XM_017022698.1:c.4946G>T	XP_016878187.1:p.Arg1649Ile
NM_004667.6:c.11780G>T MANE Select	NP_004658.3:p.Arg3927Ile