Canonical Allele Identifier: CA391381209

Gene: HERC2

Linked Data

• ClinVar Variation Id: 1194923
• ClinVar RCV Id: RCV001557833
• dbSNP Id: rs1225399889
• gnomAD v2: 15-28386649-G-A
• gnomAD v3: 15-28141503-G-A
• gnomAD v4: 15-28141503-G-A
• MyVariant Identifiers: chr15:g.28386649G>A (hg19) ; chr15:g.28141503G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141503G>A , CM000677.2:g.28141503G>A	GRCh38
NC_000015.9:g.28386649G>A , CM000677.1:g.28386649G>A	GRCh37
NC_000015.8:g.26060244G>A	NCBI36
NG_016355.1:g.185647C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261609.13:c.11944C>T MANE Select	ENSP00000261609.8:p.Leu3982Phe
ENST00000650509.1:c.3655C>T	ENSP00000496936.1:p.Leu1219Phe
ENST00000261609.11:c.11944C>T	ENSP00000261609.7:p.Leu3982Phe
NM_004667.5:c.11944C>T	NP_004658.3:p.Leu3982Phe
XM_005268276.3:c.11830C>T	XP_005268333.1:p.Leu3944Phe
XM_005268277.3:c.11830C>T	XP_005268334.1:p.Leu3944Phe
XM_006720726.2:c.11929C>T	XP_006720789.1:p.Leu3977Phe
XM_006720727.2:c.11686C>T	XP_006720790.1:p.Leu3896Phe
XM_011522131.1:c.11461C>T	XP_011520433.1:p.Leu3821Phe
XM_011522132.1:c.9460C>T	XP_011520434.1:p.Leu3154Phe
XM_011522133.1:c.8689C>T	XP_011520435.1:p.Leu2897Phe
XM_011522134.1:c.6061C>T	XP_011520436.1:p.Leu2021Phe
XM_005268276.5:c.11830C>T	XP_005268333.1:p.Leu3944Phe
XM_006720726.3:c.11929C>T	XP_006720789.1:p.Leu3977Phe
XM_006720727.3:c.11686C>T	XP_006720790.1:p.Leu3896Phe
XM_017022695.1:c.11830C>T	XP_016878184.1:p.Leu3944Phe
XM_017022696.1:c.11830C>T	XP_016878185.1:p.Leu3944Phe
XM_017022697.1:c.5110C>T	XP_016878186.1:p.Leu1704Phe
XM_017022698.1:c.5110C>T	XP_016878187.1:p.Leu1704Phe
NM_004667.6:c.11944C>T MANE Select	NP_004658.3:p.Leu3982Phe