Canonical Allele Identifier: CA391381132

Gene: HERC2

Linked Data

• dbSNP Id: rs1173471104
• gnomAD v3: 15-28141488-G-T
• gnomAD v4: 15-28141488-G-T
• MyVariant Identifiers: chr15:g.28386634G>T (hg19) ; chr15:g.28141488G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141488G>T , CM000677.2:g.28141488G>T	GRCh38
NC_000015.9:g.28386634G>T , CM000677.1:g.28386634G>T	GRCh37
NC_000015.8:g.26060229G>T	NCBI36
NG_016355.1:g.185662C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261609.13:c.11959C>A MANE Select	ENSP00000261609.8:p.Pro3987Thr
ENST00000650509.1:c.3670C>A	ENSP00000496936.1:p.Pro1224Thr
ENST00000261609.11:c.11959C>A	ENSP00000261609.7:p.Pro3987Thr
NM_004667.5:c.11959C>A	NP_004658.3:p.Pro3987Thr
XM_005268276.3:c.11845C>A	XP_005268333.1:p.Pro3949Thr
XM_005268277.3:c.11845C>A	XP_005268334.1:p.Pro3949Thr
XM_006720726.2:c.11944C>A	XP_006720789.1:p.Pro3982Thr
XM_006720727.2:c.11701C>A	XP_006720790.1:p.Pro3901Thr
XM_011522131.1:c.11476C>A	XP_011520433.1:p.Pro3826Thr
XM_011522132.1:c.9475C>A	XP_011520434.1:p.Pro3159Thr
XM_011522133.1:c.8704C>A	XP_011520435.1:p.Pro2902Thr
XM_011522134.1:c.6076C>A	XP_011520436.1:p.Pro2026Thr
XM_005268276.5:c.11845C>A	XP_005268333.1:p.Pro3949Thr
XM_006720726.3:c.11944C>A	XP_006720789.1:p.Pro3982Thr
XM_006720727.3:c.11701C>A	XP_006720790.1:p.Pro3901Thr
XM_017022695.1:c.11845C>A	XP_016878184.1:p.Pro3949Thr
XM_017022696.1:c.11845C>A	XP_016878185.1:p.Pro3949Thr
XM_017022697.1:c.5125C>A	XP_016878186.1:p.Pro1709Thr
XM_017022698.1:c.5125C>A	XP_016878187.1:p.Pro1709Thr
NM_004667.6:c.11959C>A MANE Select	NP_004658.3:p.Pro3987Thr