Canonical Allele Identifier: CA7440469

Gene: HERC2

Linked Data

• dbSNP Id: rs774785178
• ExAC: 15:28386911 C / G
• gnomAD v2: 15-28386911-C-G
• gnomAD v4: 15-28141765-C-G
• MyVariant Identifiers: chr15:g.28386911C>G (hg19) ; chr15:g.28141765C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141765C>G , CM000677.2:g.28141765C>G	GRCh38
NC_000015.9:g.28386911C>G , CM000677.1:g.28386911C>G	GRCh37
NC_000015.8:g.26060506C>G	NCBI36
NG_016355.1:g.185385G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11782G>C MANE Select	ENSP00000261609.8:p.Glu3928Gln
ENST00000650509.1:c.3493G>C	ENSP00000496936.1:p.Glu1165Gln
ENST00000261609.11:c.11782G>C	ENSP00000261609.7:p.Glu3928Gln
ENST00000564519.1:n.297G>C
NM_004667.5:c.11782G>C	NP_004658.3:p.Glu3928Gln
XM_005268276.3:c.11668G>C	XP_005268333.1:p.Glu3890Gln
XM_005268277.3:c.11668G>C	XP_005268334.1:p.Glu3890Gln
XM_006720726.2:c.11767G>C	XP_006720789.1:p.Glu3923Gln
XM_006720727.2:c.11524G>C	XP_006720790.1:p.Glu3842Gln
XM_011522131.1:c.11299G>C	XP_011520433.1:p.Glu3767Gln
XM_011522132.1:c.9298G>C	XP_011520434.1:p.Glu3100Gln
XM_011522133.1:c.8527G>C	XP_011520435.1:p.Glu2843Gln
XM_011522134.1:c.5899G>C	XP_011520436.1:p.Glu1967Gln
XM_005268276.5:c.11668G>C	XP_005268333.1:p.Glu3890Gln
XM_006720726.3:c.11767G>C	XP_006720789.1:p.Glu3923Gln
XM_006720727.3:c.11524G>C	XP_006720790.1:p.Glu3842Gln
XM_017022695.1:c.11668G>C	XP_016878184.1:p.Glu3890Gln
XM_017022696.1:c.11668G>C	XP_016878185.1:p.Glu3890Gln
XM_017022697.1:c.4948G>C	XP_016878186.1:p.Glu1650Gln
XM_017022698.1:c.4948G>C	XP_016878187.1:p.Glu1650Gln
NM_004667.6:c.11782G>C MANE Select	NP_004658.3:p.Glu3928Gln