Canonical Allele Identifier: CA7439643

Gene: HERC2

Linked Data

• dbSNP Id: rs756113580
• ExAC: 15:28356902 C / T
• gnomAD v2: 15-28356902-C-T
• gnomAD v4: 15-28111756-C-T
• MyVariant Identifiers: chr15:g.28356902C>T (hg19) ; chr15:g.28111756C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28111756C>T , CM000677.2:g.28111756C>T	GRCh38
NC_000015.9:g.28356902C>T , CM000677.1:g.28356902C>T	GRCh37
NC_000015.8:g.26030497C>T	NCBI36
NG_016355.1:g.215394G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261609.13:c.*7G>A MANE Select	ENSP00000261609.8:n.*7G>A
ENST00000650509.1:c.5991G>A	ENSP00000496936.1:n.5991G>A
ENST00000261609.11:c.*7G>A	ENSP00000261609.7:n.*7G>A
ENST00000566635.5:n.1637G>A
NM_004667.5:c.*7G>A	NP_004658.3:n.*7G>A
XM_005268276.3:c.*7G>A	XP_005268333.1:n.*7G>A
XM_005268277.3:c.*7G>A	XP_005268334.1:n.*7G>A
XM_006720726.2:c.*7G>A	XP_006720789.1:n.*7G>A
XM_006720727.2:c.*7G>A	XP_006720790.1:n.*7G>A
XM_011522131.1:c.*7G>A	XP_011520433.1:n.*7G>A
XM_011522132.1:c.*7G>A	XP_011520434.1:n.*7G>A
XM_011522133.1:c.*7G>A	XP_011520435.1:n.*7G>A
XM_011522134.1:c.*7G>A	XP_011520436.1:n.*7G>A
XM_005268276.5:c.*7G>A	XP_005268333.1:n.*7G>A
XM_006720726.3:c.*7G>A	XP_006720789.1:n.*7G>A
XM_006720727.3:c.*7G>A	XP_006720790.1:n.*7G>A
XM_017022695.1:c.*7G>A	XP_016878184.1:n.*7G>A
XM_017022696.1:c.*7G>A	XP_016878185.1:n.*7G>A
XM_017022697.1:c.*7G>A	XP_016878186.1:n.*7G>A
XM_017022698.1:c.*7G>A	XP_016878187.1:n.*7G>A
NM_004667.6:c.*7G>A MANE Select	NP_004658.3:n.*7G>A