Canonical Allele Identifier: CA391381598

Gene: HERC2

Linked Data

• gnomAD v4: 15-28141595-C-T
• MyVariant Identifiers: chr15:g.28386741C>T (hg19) ; chr15:g.28141595C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141595C>T , CM000677.2:g.28141595C>T	GRCh38
NC_000015.9:g.28386741C>T , CM000677.1:g.28386741C>T	GRCh37
NC_000015.8:g.26060336C>T	NCBI36
NG_016355.1:g.185555G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11852G>A MANE Select	ENSP00000261609.8:p.Ser3951Asn
ENST00000650509.1:c.3563G>A	ENSP00000496936.1:p.Ser1188Asn
ENST00000261609.11:c.11852G>A	ENSP00000261609.7:p.Ser3951Asn
NM_004667.5:c.11852G>A	NP_004658.3:p.Ser3951Asn
XM_005268276.3:c.11738G>A	XP_005268333.1:p.Ser3913Asn
XM_005268277.3:c.11738G>A	XP_005268334.1:p.Ser3913Asn
XM_006720726.2:c.11837G>A	XP_006720789.1:p.Ser3946Asn
XM_006720727.2:c.11594G>A	XP_006720790.1:p.Ser3865Asn
XM_011522131.1:c.11369G>A	XP_011520433.1:p.Ser3790Asn
XM_011522132.1:c.9368G>A	XP_011520434.1:p.Ser3123Asn
XM_011522133.1:c.8597G>A	XP_011520435.1:p.Ser2866Asn
XM_011522134.1:c.5969G>A	XP_011520436.1:p.Ser1990Asn
XM_005268276.5:c.11738G>A	XP_005268333.1:p.Ser3913Asn
XM_006720726.3:c.11837G>A	XP_006720789.1:p.Ser3946Asn
XM_006720727.3:c.11594G>A	XP_006720790.1:p.Ser3865Asn
XM_017022695.1:c.11738G>A	XP_016878184.1:p.Ser3913Asn
XM_017022696.1:c.11738G>A	XP_016878185.1:p.Ser3913Asn
XM_017022697.1:c.5018G>A	XP_016878186.1:p.Ser1673Asn
XM_017022698.1:c.5018G>A	XP_016878187.1:p.Ser1673Asn
NM_004667.6:c.11852G>A MANE Select	NP_004658.3:p.Ser3951Asn