Canonical Allele Identifier: CA267946441

Gene: HERC2

Linked Data

• dbSNP Id: rs1000087651
• gnomAD v3: 15-28141804-T-C
• gnomAD v4: 15-28141804-T-C
• MyVariant Identifiers: chr15:g.28386950T>C (hg19) ; chr15:g.28141804T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141804T>C , CM000677.2:g.28141804T>C	GRCh38
NC_000015.9:g.28386950T>C , CM000677.1:g.28386950T>C	GRCh37
NC_000015.8:g.26060545T>C	NCBI36
NG_016355.1:g.185346A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11743A>G MANE Select	ENSP00000261609.8:p.Met3915Val
ENST00000650509.1:c.3454A>G	ENSP00000496936.1:p.Met1152Val
ENST00000261609.11:c.11743A>G	ENSP00000261609.7:p.Met3915Val
ENST00000564519.1:n.258A>G
NM_004667.5:c.11743A>G	NP_004658.3:p.Met3915Val
XM_005268276.3:c.11629A>G	XP_005268333.1:p.Met3877Val
XM_005268277.3:c.11629A>G	XP_005268334.1:p.Met3877Val
XM_006720726.2:c.11728A>G	XP_006720789.1:p.Met3910Val
XM_006720727.2:c.11485A>G	XP_006720790.1:p.Met3829Val
XM_011522131.1:c.11260A>G	XP_011520433.1:p.Met3754Val
XM_011522132.1:c.9259A>G	XP_011520434.1:p.Met3087Val
XM_011522133.1:c.8488A>G	XP_011520435.1:p.Met2830Val
XM_011522134.1:c.5860A>G	XP_011520436.1:p.Met1954Val
XM_005268276.5:c.11629A>G	XP_005268333.1:p.Met3877Val
XM_006720726.3:c.11728A>G	XP_006720789.1:p.Met3910Val
XM_006720727.3:c.11485A>G	XP_006720790.1:p.Met3829Val
XM_017022695.1:c.11629A>G	XP_016878184.1:p.Met3877Val
XM_017022696.1:c.11629A>G	XP_016878185.1:p.Met3877Val
XM_017022697.1:c.4909A>G	XP_016878186.1:p.Met1637Val
XM_017022698.1:c.4909A>G	XP_016878187.1:p.Met1637Val
NM_004667.6:c.11743A>G MANE Select	NP_004658.3:p.Met3915Val