Canonical Allele Identifier: CA391382866

Gene: HERC2

Linked Data

• ClinVar Variation Id: 522952
• ClinVar RCV Id: RCV000626149
• dbSNP Id: rs1555415658
• MyVariant Identifiers: chr15:g.28420779A>T (hg19) ; chr15:g.28175633A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28175633A>T , CM000677.2:g.28175633A>T	GRCh38
NC_000015.9:g.28420779A>T , CM000677.1:g.28420779A>T	GRCh37
NC_000015.8:g.26094374A>T	NCBI36
NG_016355.1:g.151517T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.9710T>A MANE Select	ENSP00000261609.8:p.Leu3237Ter
ENST00000650509.1:c.1421T>A	ENSP00000496936.1:p.Leu474Ter
ENST00000261609.11:c.9710T>A	ENSP00000261609.7:p.Leu3237Ter
NM_004667.5:c.9710T>A	NP_004658.3:p.Leu3237Ter
XM_005268276.3:c.9596T>A	XP_005268333.1:p.Leu3199Ter
XM_005268277.3:c.9596T>A	XP_005268334.1:p.Leu3199Ter
XM_006720726.2:c.9695T>A	XP_006720789.1:p.Leu3232Ter
XM_006720727.2:c.9452T>A	XP_006720790.1:p.Leu3151Ter
XM_011522131.1:c.9227T>A	XP_011520433.1:p.Leu3076Ter
XM_011522132.1:c.7226T>A	XP_011520434.1:p.Leu2409Ter
XM_011522133.1:c.6455T>A	XP_011520435.1:p.Leu2152Ter
XM_011522134.1:c.3827T>A	XP_011520436.1:p.Leu1276Ter
XR_931930.1:n.9870T>A
XM_005268276.5:c.9596T>A	XP_005268333.1:p.Leu3199Ter
XM_006720726.3:c.9695T>A	XP_006720789.1:p.Leu3232Ter
XM_006720727.3:c.9452T>A	XP_006720790.1:p.Leu3151Ter
XM_017022695.1:c.9596T>A	XP_016878184.1:p.Leu3199Ter
XM_017022696.1:c.9596T>A	XP_016878185.1:p.Leu3199Ter
XM_017022697.1:c.2876T>A	XP_016878186.1:p.Leu959Ter
XM_017022698.1:c.2876T>A	XP_016878187.1:p.Leu959Ter
XR_931930.2:n.9871T>A
NM_004667.6:c.9710T>A MANE Select	NP_004658.3:p.Leu3237Ter