Canonical Allele Identifier: CA7440483

Gene: HERC2

Linked Data

• ClinVar Variation Id: 393051
• ClinVar RCV Id: RCV000421606 ; RCV001782906
• dbSNP Id: rs770688775
• ExAC: 15:28386977 G / A
• gnomAD v2: 15-28386977-G-A
• gnomAD v3: 15-28141831-G-A
• gnomAD v4: 15-28141831-G-A
• COSMIC: COSM960137 ; COSM4867491
• MyVariant Identifiers: chr15:g.28386977G>A (hg19) ; chr15:g.28141831G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141831G>A , CM000677.2:g.28141831G>A	GRCh38
NC_000015.9:g.28386977G>A , CM000677.1:g.28386977G>A	GRCh37
NC_000015.8:g.26060572G>A	NCBI36
NG_016355.1:g.185319C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11716C>T MANE Select	ENSP00000261609.8:p.Arg3906Cys
ENST00000650509.1:c.3427C>T	ENSP00000496936.1:p.Arg1143Cys
ENST00000261609.11:c.11716C>T	ENSP00000261609.7:p.Arg3906Cys
ENST00000564519.1:n.231C>T
NM_004667.5:c.11716C>T	NP_004658.3:p.Arg3906Cys
XM_005268276.3:c.11602C>T	XP_005268333.1:p.Arg3868Cys
XM_005268277.3:c.11602C>T	XP_005268334.1:p.Arg3868Cys
XM_006720726.2:c.11701C>T	XP_006720789.1:p.Arg3901Cys
XM_006720727.2:c.11458C>T	XP_006720790.1:p.Arg3820Cys
XM_011522131.1:c.11233C>T	XP_011520433.1:p.Arg3745Cys
XM_011522132.1:c.9232C>T	XP_011520434.1:p.Arg3078Cys
XM_011522133.1:c.8461C>T	XP_011520435.1:p.Arg2821Cys
XM_011522134.1:c.5833C>T	XP_011520436.1:p.Arg1945Cys
XM_005268276.5:c.11602C>T	XP_005268333.1:p.Arg3868Cys
XM_006720726.3:c.11701C>T	XP_006720789.1:p.Arg3901Cys
XM_006720727.3:c.11458C>T	XP_006720790.1:p.Arg3820Cys
XM_017022695.1:c.11602C>T	XP_016878184.1:p.Arg3868Cys
XM_017022696.1:c.11602C>T	XP_016878185.1:p.Arg3868Cys
XM_017022697.1:c.4882C>T	XP_016878186.1:p.Arg1628Cys
XM_017022698.1:c.4882C>T	XP_016878187.1:p.Arg1628Cys
NM_004667.6:c.11716C>T MANE Select	NP_004658.3:p.Arg3906Cys