Canonical Allele Identifier: CA7440453

Gene: HERC2

Linked Data

• dbSNP Id: rs202200969
• ExAC: 15:28386807 T / C
• gnomAD v2: 15-28386807-T-C
• gnomAD v3: 15-28141661-T-C
• gnomAD v4: 15-28141661-T-C
• MyVariant Identifiers: chr15:g.28386807T>C (hg19) ; chr15:g.28141661T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141661T>C , CM000677.2:g.28141661T>C	GRCh38
NC_000015.9:g.28386807T>C , CM000677.1:g.28386807T>C	GRCh37
NC_000015.8:g.26060402T>C	NCBI36
NG_016355.1:g.185489A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11817-31A>G MANE Select	ENSP00000261609.8:n.11817-31A>G
ENST00000650509.1:c.3528-31A>G	ENSP00000496936.1:n.3528-31A>G
ENST00000261609.11:c.11817-31A>G	ENSP00000261609.7:n.11817-31A>G
NM_004667.5:c.11817-31A>G	NP_004658.3:n.11817-31A>G
XM_005268276.3:c.11703-31A>G	XP_005268333.1:n.11703-31A>G
XM_005268277.3:c.11703-31A>G	XP_005268334.1:n.11703-31A>G
XM_006720726.2:c.11802-31A>G	XP_006720789.1:n.11802-31A>G
XM_006720727.2:c.11559-31A>G	XP_006720790.1:n.11559-31A>G
XM_011522131.1:c.11334-31A>G	XP_011520433.1:n.11334-31A>G
XM_011522132.1:c.9333-31A>G	XP_011520434.1:n.9333-31A>G
XM_011522133.1:c.8562-31A>G	XP_011520435.1:n.8562-31A>G
XM_011522134.1:c.5934-31A>G	XP_011520436.1:n.5934-31A>G
XM_005268276.5:c.11703-31A>G	XP_005268333.1:n.11703-31A>G
XM_006720726.3:c.11802-31A>G	XP_006720789.1:n.11802-31A>G
XM_006720727.3:c.11559-31A>G	XP_006720790.1:n.11559-31A>G
XM_017022695.1:c.11703-31A>G	XP_016878184.1:n.11703-31A>G
XM_017022696.1:c.11703-31A>G	XP_016878185.1:n.11703-31A>G
XM_017022697.1:c.4983-31A>G	XP_016878186.1:n.4983-31A>G
XM_017022698.1:c.4983-31A>G	XP_016878187.1:n.4983-31A>G
NM_004667.6:c.11817-31A>G MANE Select	NP_004658.3:n.11817-31A>G