Canonical Allele Identifier: CA391381867

Gene: HERC2

Linked Data

• dbSNP Id: rs1366639261
• gnomAD v4: 15-28141762-G-T
• MyVariant Identifiers: chr15:g.28386908G>T (hg19) ; chr15:g.28141762G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141762G>T , CM000677.2:g.28141762G>T	GRCh38
NC_000015.9:g.28386908G>T , CM000677.1:g.28386908G>T	GRCh37
NC_000015.8:g.26060503G>T	NCBI36
NG_016355.1:g.185388C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11785C>A MANE Select	ENSP00000261609.8:p.Gln3929Lys
ENST00000650509.1:c.3496C>A	ENSP00000496936.1:p.Gln1166Lys
ENST00000261609.11:c.11785C>A	ENSP00000261609.7:p.Gln3929Lys
ENST00000564519.1:n.300C>A
NM_004667.5:c.11785C>A	NP_004658.3:p.Gln3929Lys
XM_005268276.3:c.11671C>A	XP_005268333.1:p.Gln3891Lys
XM_005268277.3:c.11671C>A	XP_005268334.1:p.Gln3891Lys
XM_006720726.2:c.11770C>A	XP_006720789.1:p.Gln3924Lys
XM_006720727.2:c.11527C>A	XP_006720790.1:p.Gln3843Lys
XM_011522131.1:c.11302C>A	XP_011520433.1:p.Gln3768Lys
XM_011522132.1:c.9301C>A	XP_011520434.1:p.Gln3101Lys
XM_011522133.1:c.8530C>A	XP_011520435.1:p.Gln2844Lys
XM_011522134.1:c.5902C>A	XP_011520436.1:p.Gln1968Lys
XM_005268276.5:c.11671C>A	XP_005268333.1:p.Gln3891Lys
XM_006720726.3:c.11770C>A	XP_006720789.1:p.Gln3924Lys
XM_006720727.3:c.11527C>A	XP_006720790.1:p.Gln3843Lys
XM_017022695.1:c.11671C>A	XP_016878184.1:p.Gln3891Lys
XM_017022696.1:c.11671C>A	XP_016878185.1:p.Gln3891Lys
XM_017022697.1:c.4951C>A	XP_016878186.1:p.Gln1651Lys
XM_017022698.1:c.4951C>A	XP_016878187.1:p.Gln1651Lys
NM_004667.6:c.11785C>A MANE Select	NP_004658.3:p.Gln3929Lys