Canonical Allele Identifier: CA7440468

Gene: HERC2

Linked Data

• ClinVar Variation Id: 3051496
• ClinVar RCV Id: RCV003959473
• dbSNP Id: rs145571215
• ExAC: 15:28386903 G / A
• gnomAD v2: 15-28386903-G-A
• gnomAD v3: 15-28141757-G-A
• gnomAD v4: 15-28141757-G-A
• MyVariant Identifiers: chr15:g.28386903G>A (hg19) ; chr15:g.28141757G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141757G>A , CM000677.2:g.28141757G>A	GRCh38
NC_000015.9:g.28386903G>A , CM000677.1:g.28386903G>A	GRCh37
NC_000015.8:g.26060498G>A	NCBI36
NG_016355.1:g.185393C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11790C>T MANE Select	ENSP00000261609.8:p.Asp3930=
ENST00000650509.1:c.3501C>T	ENSP00000496936.1:p.Asp1167=
ENST00000261609.11:c.11790C>T	ENSP00000261609.7:p.Asp3930=
ENST00000564519.1:n.305C>T
NM_004667.5:c.11790C>T	NP_004658.3:p.Asp3930=
XM_005268276.3:c.11676C>T	XP_005268333.1:p.Asp3892=
XM_005268277.3:c.11676C>T	XP_005268334.1:p.Asp3892=
XM_006720726.2:c.11775C>T	XP_006720789.1:p.Asp3925=
XM_006720727.2:c.11532C>T	XP_006720790.1:p.Asp3844=
XM_011522131.1:c.11307C>T	XP_011520433.1:p.Asp3769=
XM_011522132.1:c.9306C>T	XP_011520434.1:p.Asp3102=
XM_011522133.1:c.8535C>T	XP_011520435.1:p.Asp2845=
XM_011522134.1:c.5907C>T	XP_011520436.1:p.Asp1969=
XM_005268276.5:c.11676C>T	XP_005268333.1:p.Asp3892=
XM_006720726.3:c.11775C>T	XP_006720789.1:p.Asp3925=
XM_006720727.3:c.11532C>T	XP_006720790.1:p.Asp3844=
XM_017022695.1:c.11676C>T	XP_016878184.1:p.Asp3892=
XM_017022696.1:c.11676C>T	XP_016878185.1:p.Asp3892=
XM_017022697.1:c.4956C>T	XP_016878186.1:p.Asp1652=
XM_017022698.1:c.4956C>T	XP_016878187.1:p.Asp1652=
NM_004667.6:c.11790C>T MANE Select	NP_004658.3:p.Asp3930=