Canonical Allele Identifier: CA7440480

Gene: HERC2

Linked Data

• dbSNP Id: rs777646194
• ExAC: 15:28386967 A / G
• gnomAD v2: 15-28386967-A-G
• MyVariant Identifiers: chr15:g.28386967A>G (hg19) ; chr15:g.28141821A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141821A>G , CM000677.2:g.28141821A>G	GRCh38
NC_000015.9:g.28386967A>G , CM000677.1:g.28386967A>G	GRCh37
NC_000015.8:g.26060562A>G	NCBI36
NG_016355.1:g.185329T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11726T>C MANE Select	ENSP00000261609.8:p.Met3909Thr
ENST00000650509.1:c.3437T>C	ENSP00000496936.1:p.Met1146Thr
ENST00000261609.11:c.11726T>C	ENSP00000261609.7:p.Met3909Thr
ENST00000564519.1:n.241T>C
NM_004667.5:c.11726T>C	NP_004658.3:p.Met3909Thr
XM_005268276.3:c.11612T>C	XP_005268333.1:p.Met3871Thr
XM_005268277.3:c.11612T>C	XP_005268334.1:p.Met3871Thr
XM_006720726.2:c.11711T>C	XP_006720789.1:p.Met3904Thr
XM_006720727.2:c.11468T>C	XP_006720790.1:p.Met3823Thr
XM_011522131.1:c.11243T>C	XP_011520433.1:p.Met3748Thr
XM_011522132.1:c.9242T>C	XP_011520434.1:p.Met3081Thr
XM_011522133.1:c.8471T>C	XP_011520435.1:p.Met2824Thr
XM_011522134.1:c.5843T>C	XP_011520436.1:p.Met1948Thr
XM_005268276.5:c.11612T>C	XP_005268333.1:p.Met3871Thr
XM_006720726.3:c.11711T>C	XP_006720789.1:p.Met3904Thr
XM_006720727.3:c.11468T>C	XP_006720790.1:p.Met3823Thr
XM_017022695.1:c.11612T>C	XP_016878184.1:p.Met3871Thr
XM_017022696.1:c.11612T>C	XP_016878185.1:p.Met3871Thr
XM_017022697.1:c.4892T>C	XP_016878186.1:p.Met1631Thr
XM_017022698.1:c.4892T>C	XP_016878187.1:p.Met1631Thr
NM_004667.6:c.11726T>C MANE Select	NP_004658.3:p.Met3909Thr