Canonical Allele Identifier: CA489235028

Gene: HERC2

Linked Data

• dbSNP Id: rs1337897249
• gnomAD v2: 15-28386915-T-C
• gnomAD v4: 15-28141769-T-C
• MyVariant Identifiers: chr15:g.28386915T>C (hg19) ; chr15:g.28141769T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141769T>C , CM000677.2:g.28141769T>C	GRCh38
NC_000015.9:g.28386915T>C , CM000677.1:g.28386915T>C	GRCh37
NC_000015.8:g.26060510T>C	NCBI36
NG_016355.1:g.185381A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11778A>G MANE Select	ENSP00000261609.8:p.Lys3926=
ENST00000650509.1:c.3489A>G	ENSP00000496936.1:p.Lys1163=
ENST00000261609.11:c.11778A>G	ENSP00000261609.7:p.Lys3926=
ENST00000564519.1:n.293A>G
NM_004667.5:c.11778A>G	NP_004658.3:p.Lys3926=
XM_005268276.3:c.11664A>G	XP_005268333.1:p.Lys3888=
XM_005268277.3:c.11664A>G	XP_005268334.1:p.Lys3888=
XM_006720726.2:c.11763A>G	XP_006720789.1:p.Lys3921=
XM_006720727.2:c.11520A>G	XP_006720790.1:p.Lys3840=
XM_011522131.1:c.11295A>G	XP_011520433.1:p.Lys3765=
XM_011522132.1:c.9294A>G	XP_011520434.1:p.Lys3098=
XM_011522133.1:c.8523A>G	XP_011520435.1:p.Lys2841=
XM_011522134.1:c.5895A>G	XP_011520436.1:p.Lys1965=
XM_005268276.5:c.11664A>G	XP_005268333.1:p.Lys3888=
XM_006720726.3:c.11763A>G	XP_006720789.1:p.Lys3921=
XM_006720727.3:c.11520A>G	XP_006720790.1:p.Lys3840=
XM_017022695.1:c.11664A>G	XP_016878184.1:p.Lys3888=
XM_017022696.1:c.11664A>G	XP_016878185.1:p.Lys3888=
XM_017022697.1:c.4944A>G	XP_016878186.1:p.Lys1648=
XM_017022698.1:c.4944A>G	XP_016878187.1:p.Lys1648=
NM_004667.6:c.11778A>G MANE Select	NP_004658.3:p.Lys3926=