Canonical Allele Identifier: CA391381820

Gene: HERC2

Linked Data

• MyVariant Identifiers: chr15:g.28386889T>G (hg19) ; chr15:g.28141743T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141743T>G , CM000677.2:g.28141743T>G	GRCh38
NC_000015.9:g.28386889T>G , CM000677.1:g.28386889T>G	GRCh37
NC_000015.8:g.26060484T>G	NCBI36
NG_016355.1:g.185407A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11804A>C MANE Select	ENSP00000261609.8:p.Gln3935Pro
ENST00000650509.1:c.3515A>C	ENSP00000496936.1:p.Gln1172Pro
ENST00000261609.11:c.11804A>C	ENSP00000261609.7:p.Gln3935Pro
ENST00000564519.1:n.319A>C
NM_004667.5:c.11804A>C	NP_004658.3:p.Gln3935Pro
XM_005268276.3:c.11690A>C	XP_005268333.1:p.Gln3897Pro
XM_005268277.3:c.11690A>C	XP_005268334.1:p.Gln3897Pro
XM_006720726.2:c.11789A>C	XP_006720789.1:p.Gln3930Pro
XM_006720727.2:c.11546A>C	XP_006720790.1:p.Gln3849Pro
XM_011522131.1:c.11321A>C	XP_011520433.1:p.Gln3774Pro
XM_011522132.1:c.9320A>C	XP_011520434.1:p.Gln3107Pro
XM_011522133.1:c.8549A>C	XP_011520435.1:p.Gln2850Pro
XM_011522134.1:c.5921A>C	XP_011520436.1:p.Gln1974Pro
XM_005268276.5:c.11690A>C	XP_005268333.1:p.Gln3897Pro
XM_006720726.3:c.11789A>C	XP_006720789.1:p.Gln3930Pro
XM_006720727.3:c.11546A>C	XP_006720790.1:p.Gln3849Pro
XM_017022695.1:c.11690A>C	XP_016878184.1:p.Gln3897Pro
XM_017022696.1:c.11690A>C	XP_016878185.1:p.Gln3897Pro
XM_017022697.1:c.4970A>C	XP_016878186.1:p.Gln1657Pro
XM_017022698.1:c.4970A>C	XP_016878187.1:p.Gln1657Pro
NM_004667.6:c.11804A>C MANE Select	NP_004658.3:p.Gln3935Pro