Canonical Allele Identifier: CA391382028

Gene: HERC2

Linked Data

• MyVariant Identifiers: chr15:g.28386978A>C (hg19) ; chr15:g.28141832A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141832A>C , CM000677.2:g.28141832A>C	GRCh38
NC_000015.9:g.28386978A>C , CM000677.1:g.28386978A>C	GRCh37
NC_000015.8:g.26060573A>C	NCBI36
NG_016355.1:g.185318T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11715T>G MANE Select	ENSP00000261609.8:p.Ile3905Met
ENST00000650509.1:c.3426T>G	ENSP00000496936.1:p.Ile1142Met
ENST00000261609.11:c.11715T>G	ENSP00000261609.7:p.Ile3905Met
ENST00000564519.1:n.230T>G
NM_004667.5:c.11715T>G	NP_004658.3:p.Ile3905Met
XM_005268276.3:c.11601T>G	XP_005268333.1:p.Ile3867Met
XM_005268277.3:c.11601T>G	XP_005268334.1:p.Ile3867Met
XM_006720726.2:c.11700T>G	XP_006720789.1:p.Ile3900Met
XM_006720727.2:c.11457T>G	XP_006720790.1:p.Ile3819Met
XM_011522131.1:c.11232T>G	XP_011520433.1:p.Ile3744Met
XM_011522132.1:c.9231T>G	XP_011520434.1:p.Ile3077Met
XM_011522133.1:c.8460T>G	XP_011520435.1:p.Ile2820Met
XM_011522134.1:c.5832T>G	XP_011520436.1:p.Ile1944Met
XM_005268276.5:c.11601T>G	XP_005268333.1:p.Ile3867Met
XM_006720726.3:c.11700T>G	XP_006720789.1:p.Ile3900Met
XM_006720727.3:c.11457T>G	XP_006720790.1:p.Ile3819Met
XM_017022695.1:c.11601T>G	XP_016878184.1:p.Ile3867Met
XM_017022696.1:c.11601T>G	XP_016878185.1:p.Ile3867Met
XM_017022697.1:c.4881T>G	XP_016878186.1:p.Ile1627Met
XM_017022698.1:c.4881T>G	XP_016878187.1:p.Ile1627Met
NM_004667.6:c.11715T>G MANE Select	NP_004658.3:p.Ile3905Met