Canonical Allele Identifier: CA267946076

Gene: HERC2

Linked Data

• dbSNP Id: rs796543745
• gnomAD v2: 15-28386638-G-C
• gnomAD v4: 15-28141492-G-C
• MyVariant Identifiers: chr15:g.28386638G>C (hg19) ; chr15:g.28141492G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141492G>C , CM000677.2:g.28141492G>C	GRCh38
NC_000015.9:g.28386638G>C , CM000677.1:g.28386638G>C	GRCh37
NC_000015.8:g.26060233G>C	NCBI36
NG_016355.1:g.185658C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11955C>G MANE Select	ENSP00000261609.8:p.Leu3985=
ENST00000650509.1:c.3666C>G	ENSP00000496936.1:p.Leu1222=
ENST00000261609.11:c.11955C>G	ENSP00000261609.7:p.Leu3985=
NM_004667.5:c.11955C>G	NP_004658.3:p.Leu3985=
XM_005268276.3:c.11841C>G	XP_005268333.1:p.Leu3947=
XM_005268277.3:c.11841C>G	XP_005268334.1:p.Leu3947=
XM_006720726.2:c.11940C>G	XP_006720789.1:p.Leu3980=
XM_006720727.2:c.11697C>G	XP_006720790.1:p.Leu3899=
XM_011522131.1:c.11472C>G	XP_011520433.1:p.Leu3824=
XM_011522132.1:c.9471C>G	XP_011520434.1:p.Leu3157=
XM_011522133.1:c.8700C>G	XP_011520435.1:p.Leu2900=
XM_011522134.1:c.6072C>G	XP_011520436.1:p.Leu2024=
XM_005268276.5:c.11841C>G	XP_005268333.1:p.Leu3947=
XM_006720726.3:c.11940C>G	XP_006720789.1:p.Leu3980=
XM_006720727.3:c.11697C>G	XP_006720790.1:p.Leu3899=
XM_017022695.1:c.11841C>G	XP_016878184.1:p.Leu3947=
XM_017022696.1:c.11841C>G	XP_016878185.1:p.Leu3947=
XM_017022697.1:c.5121C>G	XP_016878186.1:p.Leu1707=
XM_017022698.1:c.5121C>G	XP_016878187.1:p.Leu1707=
NM_004667.6:c.11955C>G MANE Select	NP_004658.3:p.Leu3985=