Canonical Allele Identifier: CA7440470

Gene: HERC2

Linked Data

• dbSNP Id: rs140835326
• ExAC: 15:28386918 A / G
• gnomAD v2: 15-28386918-A-G
• gnomAD v3: 15-28141772-A-G
• gnomAD v4: 15-28141772-A-G
• MyVariant Identifiers: chr15:g.28386918A>G (hg19) ; chr15:g.28141772A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141772A>G , CM000677.2:g.28141772A>G	GRCh38
NC_000015.9:g.28386918A>G , CM000677.1:g.28386918A>G	GRCh37
NC_000015.8:g.26060513A>G	NCBI36
NG_016355.1:g.185378T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11775T>C MANE Select	ENSP00000261609.8:p.Phe3925=
ENST00000650509.1:c.3486T>C	ENSP00000496936.1:p.Phe1162=
ENST00000261609.11:c.11775T>C	ENSP00000261609.7:p.Phe3925=
ENST00000564519.1:n.290T>C
NM_004667.5:c.11775T>C	NP_004658.3:p.Phe3925=
XM_005268276.3:c.11661T>C	XP_005268333.1:p.Phe3887=
XM_005268277.3:c.11661T>C	XP_005268334.1:p.Phe3887=
XM_006720726.2:c.11760T>C	XP_006720789.1:p.Phe3920=
XM_006720727.2:c.11517T>C	XP_006720790.1:p.Phe3839=
XM_011522131.1:c.11292T>C	XP_011520433.1:p.Phe3764=
XM_011522132.1:c.9291T>C	XP_011520434.1:p.Phe3097=
XM_011522133.1:c.8520T>C	XP_011520435.1:p.Phe2840=
XM_011522134.1:c.5892T>C	XP_011520436.1:p.Phe1964=
XM_005268276.5:c.11661T>C	XP_005268333.1:p.Phe3887=
XM_006720726.3:c.11760T>C	XP_006720789.1:p.Phe3920=
XM_006720727.3:c.11517T>C	XP_006720790.1:p.Phe3839=
XM_017022695.1:c.11661T>C	XP_016878184.1:p.Phe3887=
XM_017022696.1:c.11661T>C	XP_016878185.1:p.Phe3887=
XM_017022697.1:c.4941T>C	XP_016878186.1:p.Phe1647=
XM_017022698.1:c.4941T>C	XP_016878187.1:p.Phe1647=
NM_004667.6:c.11775T>C MANE Select	NP_004658.3:p.Phe3925=