Canonical Allele Identifier: CA391381375

Gene: HERC2

Linked Data

• gnomAD v4: 15-28141541-T-C
• MyVariant Identifiers: chr15:g.28386687T>C (hg19) ; chr15:g.28141541T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141541T>C , CM000677.2:g.28141541T>C	GRCh38
NC_000015.9:g.28386687T>C , CM000677.1:g.28386687T>C	GRCh37
NC_000015.8:g.26060282T>C	NCBI36
NG_016355.1:g.185609A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11906A>G MANE Select	ENSP00000261609.8:p.Glu3969Gly
ENST00000650509.1:c.3617A>G	ENSP00000496936.1:p.Glu1206Gly
ENST00000261609.11:c.11906A>G	ENSP00000261609.7:p.Glu3969Gly
NM_004667.5:c.11906A>G	NP_004658.3:p.Glu3969Gly
XM_005268276.3:c.11792A>G	XP_005268333.1:p.Glu3931Gly
XM_005268277.3:c.11792A>G	XP_005268334.1:p.Glu3931Gly
XM_006720726.2:c.11891A>G	XP_006720789.1:p.Glu3964Gly
XM_006720727.2:c.11648A>G	XP_006720790.1:p.Glu3883Gly
XM_011522131.1:c.11423A>G	XP_011520433.1:p.Glu3808Gly
XM_011522132.1:c.9422A>G	XP_011520434.1:p.Glu3141Gly
XM_011522133.1:c.8651A>G	XP_011520435.1:p.Glu2884Gly
XM_011522134.1:c.6023A>G	XP_011520436.1:p.Glu2008Gly
XM_005268276.5:c.11792A>G	XP_005268333.1:p.Glu3931Gly
XM_006720726.3:c.11891A>G	XP_006720789.1:p.Glu3964Gly
XM_006720727.3:c.11648A>G	XP_006720790.1:p.Glu3883Gly
XM_017022695.1:c.11792A>G	XP_016878184.1:p.Glu3931Gly
XM_017022696.1:c.11792A>G	XP_016878185.1:p.Glu3931Gly
XM_017022697.1:c.5072A>G	XP_016878186.1:p.Glu1691Gly
XM_017022698.1:c.5072A>G	XP_016878187.1:p.Glu1691Gly
NM_004667.6:c.11906A>G MANE Select	NP_004658.3:p.Glu3969Gly