Canonical Allele Identifier: CA489234706

Gene: HERC2

Linked Data

• dbSNP Id: rs1891219743
• gnomAD v4: 15-28141498-T-G
• MyVariant Identifiers: chr15:g.28386644T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141498T>G , CM000677.2:g.28141498T>G	GRCh38
NC_000015.9:g.28386644T>G , CM000677.1:g.28386644T>G	GRCh37
NC_000015.8:g.26060239T>G	NCBI36
NG_016355.1:g.185652A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261609.13:c.11949A>C MANE Select	ENSP00000261609.8:p.Ala3983=
ENST00000650509.1:c.3660A>C	ENSP00000496936.1:p.Ala1220=
ENST00000261609.11:c.11949A>C	ENSP00000261609.7:p.Ala3983=
NM_004667.5:c.11949A>C	NP_004658.3:p.Ala3983=
XM_005268276.3:c.11835A>C	XP_005268333.1:p.Ala3945=
XM_005268277.3:c.11835A>C	XP_005268334.1:p.Ala3945=
XM_006720726.2:c.11934A>C	XP_006720789.1:p.Ala3978=
XM_006720727.2:c.11691A>C	XP_006720790.1:p.Ala3897=
XM_011522131.1:c.11466A>C	XP_011520433.1:p.Ala3822=
XM_011522132.1:c.9465A>C	XP_011520434.1:p.Ala3155=
XM_011522133.1:c.8694A>C	XP_011520435.1:p.Ala2898=
XM_011522134.1:c.6066A>C	XP_011520436.1:p.Ala2022=
XM_005268276.5:c.11835A>C	XP_005268333.1:p.Ala3945=
XM_006720726.3:c.11934A>C	XP_006720789.1:p.Ala3978=
XM_006720727.3:c.11691A>C	XP_006720790.1:p.Ala3897=
XM_017022695.1:c.11835A>C	XP_016878184.1:p.Ala3945=
XM_017022696.1:c.11835A>C	XP_016878185.1:p.Ala3945=
XM_017022697.1:c.5115A>C	XP_016878186.1:p.Ala1705=
XM_017022698.1:c.5115A>C	XP_016878187.1:p.Ala1705=
NM_004667.6:c.11949A>C MANE Select	NP_004658.3:p.Ala3983=