Canonical Allele Identifier: CA7439631
Gene: HERC2 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.28111713C>T
GRCh37 chr15:g.28356859C>T
gnomAD v2:
15:28356859 C / T
gnomAD v3:
15:28111713 C / T
gnomAD v4:
chr15-28111713-C-T
Joint Max Group AF 0.76829751 (NFE)
Genomes Max Group AF 0.75636463 (NFE)
Exomes Max Group AF 0.76873818 (NFE)
dbSNP:
1129038
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28111713C>T , CM000677.2:g.28111713C>T GRCh38
NC_000015.9:g.28356859C>T , CM000677.1:g.28356859C>T GRCh37
NC_000015.8:g.26030454C>T NCBI36
NG_016355.1:g.215437G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.*50G>A MANE Select ENSP00000261609.8:n.*50G>A
ENST00000650509.1:c.6034G>A ENSP00000496936.1:n.6034G>A
ENST00000261609.11:c.*50G>A ENSP00000261609.7:n.*50G>A
ENST00000566635.5:n.1680G>A
NM_004667.5:c.*50G>A NP_004658.3:n.*50G>A
XM_005268276.3:c.*50G>A XP_005268333.1:n.*50G>A
XM_005268277.3:c.*50G>A XP_005268334.1:n.*50G>A
XM_006720726.2:c.*50G>A XP_006720789.1:n.*50G>A
XM_006720727.2:c.*50G>A XP_006720790.1:n.*50G>A
XM_011522131.1:c.*50G>A XP_011520433.1:n.*50G>A
XM_011522132.1:c.*50G>A XP_011520434.1:n.*50G>A
XM_011522133.1:c.*50G>A XP_011520435.1:n.*50G>A
XM_011522134.1:c.*50G>A XP_011520436.1:n.*50G>A
XM_005268276.5:c.*50G>A XP_005268333.1:n.*50G>A
XM_006720726.3:c.*50G>A XP_006720789.1:n.*50G>A
XM_006720727.3:c.*50G>A XP_006720790.1:n.*50G>A
XM_017022695.1:c.*50G>A XP_016878184.1:n.*50G>A
XM_017022696.1:c.*50G>A XP_016878185.1:n.*50G>A
XM_017022697.1:c.*50G>A XP_016878186.1:n.*50G>A
XM_017022698.1:c.*50G>A XP_016878187.1:n.*50G>A
NM_004667.6:c.*50G>A MANE Select NP_004658.3:n.*50G>A
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