Canonical Allele Identifier: CA2730500609

Gene: HERC2

Linked Data

• dbSNP Id: rs2140969907

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28268115C>G , CM000677.2:g.28268115C>G	GRCh38
NC_000015.9:g.28513261C>G , CM000677.1:g.28513261C>G	GRCh37
NC_000015.8:g.26186856C>G	NCBI36
NG_016355.1:g.59035G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261609.13:c.1598+350G>C MANE Select	ENSP00000261609.8:n.1598+350G>C
ENST00000261609.11:c.1598+350G>C	ENSP00000261609.7:n.1598+350G>C
ENST00000564734.5:c.*1468+350G>C	ENSP00000456237.1:n.*1468+350G>C
NM_004667.5:c.1598+350G>C	NP_004658.3:n.1598+350G>C
XM_005268276.3:c.1484+350G>C	XP_005268333.1:n.1484+350G>C
XM_005268277.3:c.1484+350G>C	XP_005268334.1:n.1484+350G>C
XM_006720726.2:c.1598+350G>C	XP_006720789.1:n.1598+350G>C
XM_006720727.2:c.1340+350G>C	XP_006720790.1:n.1340+350G>C
XM_011522131.1:c.1115+350G>C	XP_011520433.1:n.1115+350G>C
XM_011522132.1:c.107+4100G>C	XP_011520434.1:n.107+4100G>C
XM_011522133.1:c.322+24773G>C	XP_011520435.1:n.322+24773G>C
XM_011522135.1:c.1598+350G>C	XP_011520437.1:n.1598+350G>C
XM_011522136.1:c.1598+350G>C	XP_011520438.1:n.1598+350G>C
XM_011522137.1:c.1598+350G>C	XP_011520439.1:n.1598+350G>C
XR_931930.1:n.1727+350G>C
XR_931931.1:n.1727+350G>C
XM_005268276.5:c.1484+350G>C	XP_005268333.1:n.1484+350G>C
XM_006720726.3:c.1598+350G>C	XP_006720789.1:n.1598+350G>C
XM_006720727.3:c.1340+350G>C	XP_006720790.1:n.1340+350G>C
XM_017022695.1:c.1484+350G>C	XP_016878184.1:n.1484+350G>C
XM_017022696.1:c.1484+350G>C	XP_016878185.1:n.1484+350G>C
XR_001751410.1:n.1728+350G>C
XR_931930.2:n.1728+350G>C
NM_004667.6:c.1598+350G>C MANE Select	NP_004658.3:n.1598+350G>C