Canonical Allele Identifier: CA16602451
Gene: HERC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 375975
ClinVar RCV Id: RCV000419806
dbSNP Id: rs1057519727

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28260829A>G , CM000677.2:g.28260829A>G GRCh38
NC_000015.9:g.28505975A>G , CM000677.1:g.28505975A>G GRCh37
NC_000015.8:g.26179570A>G NCBI36
NG_016355.1:g.66321T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261609.13:c.2264T>C MANE Select ENSP00000261609.8:p.Leu755Ser
ENST00000261609.11:c.2264T>C ENSP00000261609.7:p.Leu755Ser
ENST00000564734.5:c.*2134T>C ENSP00000456237.1:n.*2134T>C
NM_004667.5:c.2264T>C NP_004658.3:p.Leu755Ser
XM_005268276.3:c.2150T>C XP_005268333.1:p.Leu717Ser
XM_005268277.3:c.2150T>C XP_005268334.1:p.Leu717Ser
XM_006720726.2:c.2264T>C XP_006720789.1:p.Leu755Ser
XM_006720727.2:c.2006T>C XP_006720790.1:p.Leu669Ser
XM_011522131.1:c.1781T>C XP_011520433.1:p.Leu594Ser
XM_011522132.1:c.108-4586T>C XP_011520434.1:n.108-4586T>C
XM_011522133.1:c.323-22057T>C XP_011520435.1:n.323-22057T>C
XM_011522135.1:c.2264T>C XP_011520437.1:p.Leu755Ser
XM_011522136.1:c.2264T>C XP_011520438.1:p.Leu755Ser
XM_011522137.1:c.2264T>C XP_011520439.1:p.Leu755Ser
XR_931930.1:n.2393T>C
XR_931931.1:n.2393T>C
XM_005268276.5:c.2150T>C XP_005268333.1:p.Leu717Ser
XM_006720726.3:c.2264T>C XP_006720789.1:p.Leu755Ser
XM_006720727.3:c.2006T>C XP_006720790.1:p.Leu669Ser
XM_017022695.1:c.2150T>C XP_016878184.1:p.Leu717Ser
XM_017022696.1:c.2150T>C XP_016878185.1:p.Leu717Ser
XR_001751410.1:n.2394T>C
XR_931930.2:n.2394T>C
NM_004667.6:c.2264T>C MANE Select NP_004658.3:p.Leu755Ser