Canonical Allele Identifier: CA7440485

Gene: HERC2

Linked Data

• dbSNP Id: rs375431949
• ExAC: 15:28386988 G / A
• gnomAD v2: 15-28386988-G-A
• gnomAD v3: 15-28141842-G-A
• gnomAD v4: 15-28141842-G-A
• MyVariant Identifiers: chr15:g.28386988G>A (hg19) ; chr15:g.28141842G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141842G>A , CM000677.2:g.28141842G>A	GRCh38
NC_000015.9:g.28386988G>A , CM000677.1:g.28386988G>A	GRCh37
NC_000015.8:g.26060583G>A	NCBI36
NG_016355.1:g.185308C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11705C>T MANE Select	ENSP00000261609.8:p.Ala3902Val
ENST00000650509.1:c.3416C>T	ENSP00000496936.1:p.Ala1139Val
ENST00000261609.11:c.11705C>T	ENSP00000261609.7:p.Ala3902Val
ENST00000564519.1:n.220C>T
NM_004667.5:c.11705C>T	NP_004658.3:p.Ala3902Val
XM_005268276.3:c.11591C>T	XP_005268333.1:p.Ala3864Val
XM_005268277.3:c.11591C>T	XP_005268334.1:p.Ala3864Val
XM_006720726.2:c.11690C>T	XP_006720789.1:p.Ala3897Val
XM_006720727.2:c.11447C>T	XP_006720790.1:p.Ala3816Val
XM_011522131.1:c.11222C>T	XP_011520433.1:p.Ala3741Val
XM_011522132.1:c.9221C>T	XP_011520434.1:p.Ala3074Val
XM_011522133.1:c.8450C>T	XP_011520435.1:p.Ala2817Val
XM_011522134.1:c.5822C>T	XP_011520436.1:p.Ala1941Val
XM_005268276.5:c.11591C>T	XP_005268333.1:p.Ala3864Val
XM_006720726.3:c.11690C>T	XP_006720789.1:p.Ala3897Val
XM_006720727.3:c.11447C>T	XP_006720790.1:p.Ala3816Val
XM_017022695.1:c.11591C>T	XP_016878184.1:p.Ala3864Val
XM_017022696.1:c.11591C>T	XP_016878185.1:p.Ala3864Val
XM_017022697.1:c.4871C>T	XP_016878186.1:p.Ala1624Val
XM_017022698.1:c.4871C>T	XP_016878187.1:p.Ala1624Val
NM_004667.6:c.11705C>T MANE Select	NP_004658.3:p.Ala3902Val