Canonical Allele Identifier: CA391382061

Gene: HERC2

Linked Data

• dbSNP Id: rs1891258840
• MyVariant Identifiers: chr15:g.28386992C>G (hg19) ; chr15:g.28141846C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141846C>G , CM000677.2:g.28141846C>G	GRCh38
NC_000015.9:g.28386992C>G , CM000677.1:g.28386992C>G	GRCh37
NC_000015.8:g.26060587C>G	NCBI36
NG_016355.1:g.185304G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11701G>C MANE Select	ENSP00000261609.8:p.Val3901Leu
ENST00000650509.1:c.3412G>C	ENSP00000496936.1:p.Val1138Leu
ENST00000261609.11:c.11701G>C	ENSP00000261609.7:p.Val3901Leu
ENST00000564519.1:n.216G>C
NM_004667.5:c.11701G>C	NP_004658.3:p.Val3901Leu
XM_005268276.3:c.11587G>C	XP_005268333.1:p.Val3863Leu
XM_005268277.3:c.11587G>C	XP_005268334.1:p.Val3863Leu
XM_006720726.2:c.11686G>C	XP_006720789.1:p.Val3896Leu
XM_006720727.2:c.11443G>C	XP_006720790.1:p.Val3815Leu
XM_011522131.1:c.11218G>C	XP_011520433.1:p.Val3740Leu
XM_011522132.1:c.9217G>C	XP_011520434.1:p.Val3073Leu
XM_011522133.1:c.8446G>C	XP_011520435.1:p.Val2816Leu
XM_011522134.1:c.5818G>C	XP_011520436.1:p.Val1940Leu
XM_005268276.5:c.11587G>C	XP_005268333.1:p.Val3863Leu
XM_006720726.3:c.11686G>C	XP_006720789.1:p.Val3896Leu
XM_006720727.3:c.11443G>C	XP_006720790.1:p.Val3815Leu
XM_017022695.1:c.11587G>C	XP_016878184.1:p.Val3863Leu
XM_017022696.1:c.11587G>C	XP_016878185.1:p.Val3863Leu
XM_017022697.1:c.4867G>C	XP_016878186.1:p.Val1623Leu
XM_017022698.1:c.4867G>C	XP_016878187.1:p.Val1623Leu
NM_004667.6:c.11701G>C MANE Select	NP_004658.3:p.Val3901Leu