Canonical Allele Identifier: CA391380851

Gene: HERC2

Linked Data

• MyVariant Identifiers: chr15:g.28386588G>C (hg19) ; chr15:g.28141442G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141442G>C , CM000677.2:g.28141442G>C	GRCh38
NC_000015.9:g.28386588G>C , CM000677.1:g.28386588G>C	GRCh37
NC_000015.8:g.26060183G>C	NCBI36
NG_016355.1:g.185708C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261609.13:c.12005C>G MANE Select	ENSP00000261609.8:p.Ala4002Gly
ENST00000650509.1:c.3716C>G	ENSP00000496936.1:p.Ala1239Gly
ENST00000261609.11:c.12005C>G	ENSP00000261609.7:p.Ala4002Gly
NM_004667.5:c.12005C>G	NP_004658.3:p.Ala4002Gly
XM_005268276.3:c.11891C>G	XP_005268333.1:p.Ala3964Gly
XM_005268277.3:c.11891C>G	XP_005268334.1:p.Ala3964Gly
XM_006720726.2:c.11990C>G	XP_006720789.1:p.Ala3997Gly
XM_006720727.2:c.11747C>G	XP_006720790.1:p.Ala3916Gly
XM_011522131.1:c.11522C>G	XP_011520433.1:p.Ala3841Gly
XM_011522132.1:c.9521C>G	XP_011520434.1:p.Ala3174Gly
XM_011522133.1:c.8750C>G	XP_011520435.1:p.Ala2917Gly
XM_011522134.1:c.6122C>G	XP_011520436.1:p.Ala2041Gly
XM_005268276.5:c.11891C>G	XP_005268333.1:p.Ala3964Gly
XM_006720726.3:c.11990C>G	XP_006720789.1:p.Ala3997Gly
XM_006720727.3:c.11747C>G	XP_006720790.1:p.Ala3916Gly
XM_017022695.1:c.11891C>G	XP_016878184.1:p.Ala3964Gly
XM_017022696.1:c.11891C>G	XP_016878185.1:p.Ala3964Gly
XM_017022697.1:c.5171C>G	XP_016878186.1:p.Ala1724Gly
XM_017022698.1:c.5171C>G	XP_016878187.1:p.Ala1724Gly
NM_004667.6:c.12005C>G MANE Select	NP_004658.3:p.Ala4002Gly