Canonical Allele Identifier: CA489235011

Gene: HERC2

Linked Data

• MyVariant Identifiers: chr15:g.28386894A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141748A>G , CM000677.2:g.28141748A>G	GRCh38
NC_000015.9:g.28386894A>G , CM000677.1:g.28386894A>G	GRCh37
NC_000015.8:g.26060489A>G	NCBI36
NG_016355.1:g.185402T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11799T>C MANE Select	ENSP00000261609.8:p.Leu3933=
ENST00000650509.1:c.3510T>C	ENSP00000496936.1:p.Leu1170=
ENST00000261609.11:c.11799T>C	ENSP00000261609.7:p.Leu3933=
ENST00000564519.1:n.314T>C
NM_004667.5:c.11799T>C	NP_004658.3:p.Leu3933=
XM_005268276.3:c.11685T>C	XP_005268333.1:p.Leu3895=
XM_005268277.3:c.11685T>C	XP_005268334.1:p.Leu3895=
XM_006720726.2:c.11784T>C	XP_006720789.1:p.Leu3928=
XM_006720727.2:c.11541T>C	XP_006720790.1:p.Leu3847=
XM_011522131.1:c.11316T>C	XP_011520433.1:p.Leu3772=
XM_011522132.1:c.9315T>C	XP_011520434.1:p.Leu3105=
XM_011522133.1:c.8544T>C	XP_011520435.1:p.Leu2848=
XM_011522134.1:c.5916T>C	XP_011520436.1:p.Leu1972=
XM_005268276.5:c.11685T>C	XP_005268333.1:p.Leu3895=
XM_006720726.3:c.11784T>C	XP_006720789.1:p.Leu3928=
XM_006720727.3:c.11541T>C	XP_006720790.1:p.Leu3847=
XM_017022695.1:c.11685T>C	XP_016878184.1:p.Leu3895=
XM_017022696.1:c.11685T>C	XP_016878185.1:p.Leu3895=
XM_017022697.1:c.4965T>C	XP_016878186.1:p.Leu1655=
XM_017022698.1:c.4965T>C	XP_016878187.1:p.Leu1655=
NM_004667.6:c.11799T>C MANE Select	NP_004658.3:p.Leu3933=