Canonical Allele Identifier: CA391380983

Gene: HERC2

Linked Data

• dbSNP Id: rs1891215955
• gnomAD v3: 15-28141464-G-C
• gnomAD v4: 15-28141464-G-C
• MyVariant Identifiers: chr15:g.28386610G>C (hg19) ; chr15:g.28141464G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141464G>C , CM000677.2:g.28141464G>C	GRCh38
NC_000015.9:g.28386610G>C , CM000677.1:g.28386610G>C	GRCh37
NC_000015.8:g.26060205G>C	NCBI36
NG_016355.1:g.185686C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11983C>G MANE Select	ENSP00000261609.8:p.Gln3995Glu
ENST00000650509.1:c.3694C>G	ENSP00000496936.1:p.Gln1232Glu
ENST00000261609.11:c.11983C>G	ENSP00000261609.7:p.Gln3995Glu
NM_004667.5:c.11983C>G	NP_004658.3:p.Gln3995Glu
XM_005268276.3:c.11869C>G	XP_005268333.1:p.Gln3957Glu
XM_005268277.3:c.11869C>G	XP_005268334.1:p.Gln3957Glu
XM_006720726.2:c.11968C>G	XP_006720789.1:p.Gln3990Glu
XM_006720727.2:c.11725C>G	XP_006720790.1:p.Gln3909Glu
XM_011522131.1:c.11500C>G	XP_011520433.1:p.Gln3834Glu
XM_011522132.1:c.9499C>G	XP_011520434.1:p.Gln3167Glu
XM_011522133.1:c.8728C>G	XP_011520435.1:p.Gln2910Glu
XM_011522134.1:c.6100C>G	XP_011520436.1:p.Gln2034Glu
XM_005268276.5:c.11869C>G	XP_005268333.1:p.Gln3957Glu
XM_006720726.3:c.11968C>G	XP_006720789.1:p.Gln3990Glu
XM_006720727.3:c.11725C>G	XP_006720790.1:p.Gln3909Glu
XM_017022695.1:c.11869C>G	XP_016878184.1:p.Gln3957Glu
XM_017022696.1:c.11869C>G	XP_016878185.1:p.Gln3957Glu
XM_017022697.1:c.5149C>G	XP_016878186.1:p.Gln1717Glu
XM_017022698.1:c.5149C>G	XP_016878187.1:p.Gln1717Glu
NM_004667.6:c.11983C>G MANE Select	NP_004658.3:p.Gln3995Glu