Canonical Allele Identifier: CA267945903

Gene: HERC2

Linked Data

• dbSNP Id: rs747185424
• gnomAD v4: 15-28141287-C-T
• MyVariant Identifiers: chr15:g.28386433C>T (hg19) ; chr15:g.28141287C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141287C>T , CM000677.2:g.28141287C>T	GRCh38
NC_000015.9:g.28386433C>T , CM000677.1:g.28386433C>T	GRCh37
NC_000015.8:g.26060028C>T	NCBI36
NG_016355.1:g.185863G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261609.13:c.12015+145G>A MANE Select	ENSP00000261609.8:n.12015+145G>A
ENST00000650509.1:c.3726+145G>A	ENSP00000496936.1:n.3726+145G>A
ENST00000261609.11:c.12015+145G>A	ENSP00000261609.7:n.12015+145G>A
NM_004667.5:c.12015+145G>A	NP_004658.3:n.12015+145G>A
XM_005268276.3:c.11901+145G>A	XP_005268333.1:n.11901+145G>A
XM_005268277.3:c.11901+145G>A	XP_005268334.1:n.11901+145G>A
XM_006720726.2:c.12000+145G>A	XP_006720789.1:n.12000+145G>A
XM_006720727.2:c.11757+145G>A	XP_006720790.1:n.11757+145G>A
XM_011522131.1:c.11532+145G>A	XP_011520433.1:n.11532+145G>A
XM_011522132.1:c.9531+145G>A	XP_011520434.1:n.9531+145G>A
XM_011522133.1:c.8760+145G>A	XP_011520435.1:n.8760+145G>A
XM_011522134.1:c.6132+145G>A	XP_011520436.1:n.6132+145G>A
XM_005268276.5:c.11901+145G>A	XP_005268333.1:n.11901+145G>A
XM_006720726.3:c.12000+145G>A	XP_006720789.1:n.12000+145G>A
XM_006720727.3:c.11757+145G>A	XP_006720790.1:n.11757+145G>A
XM_017022695.1:c.11901+145G>A	XP_016878184.1:n.11901+145G>A
XM_017022696.1:c.11901+145G>A	XP_016878185.1:n.11901+145G>A
XM_017022697.1:c.5181+145G>A	XP_016878186.1:n.5181+145G>A
XM_017022698.1:c.5181+145G>A	XP_016878187.1:n.5181+145G>A
NM_004667.6:c.12015+145G>A MANE Select	NP_004658.3:n.12015+145G>A