Canonical Allele Identifier: CA391381081

Gene: HERC2

Linked Data

• MyVariant Identifiers: chr15:g.28386626C>G (hg19) ; chr15:g.28141480C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141480C>G , CM000677.2:g.28141480C>G	GRCh38
NC_000015.9:g.28386626C>G , CM000677.1:g.28386626C>G	GRCh37
NC_000015.8:g.26060221C>G	NCBI36
NG_016355.1:g.185670G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261609.13:c.11967G>C MANE Select	ENSP00000261609.8:p.Gln3989His
ENST00000650509.1:c.3678G>C	ENSP00000496936.1:p.Gln1226His
ENST00000261609.11:c.11967G>C	ENSP00000261609.7:p.Gln3989His
NM_004667.5:c.11967G>C	NP_004658.3:p.Gln3989His
XM_005268276.3:c.11853G>C	XP_005268333.1:p.Gln3951His
XM_005268277.3:c.11853G>C	XP_005268334.1:p.Gln3951His
XM_006720726.2:c.11952G>C	XP_006720789.1:p.Gln3984His
XM_006720727.2:c.11709G>C	XP_006720790.1:p.Gln3903His
XM_011522131.1:c.11484G>C	XP_011520433.1:p.Gln3828His
XM_011522132.1:c.9483G>C	XP_011520434.1:p.Gln3161His
XM_011522133.1:c.8712G>C	XP_011520435.1:p.Gln2904His
XM_011522134.1:c.6084G>C	XP_011520436.1:p.Gln2028His
XM_005268276.5:c.11853G>C	XP_005268333.1:p.Gln3951His
XM_006720726.3:c.11952G>C	XP_006720789.1:p.Gln3984His
XM_006720727.3:c.11709G>C	XP_006720790.1:p.Gln3903His
XM_017022695.1:c.11853G>C	XP_016878184.1:p.Gln3951His
XM_017022696.1:c.11853G>C	XP_016878185.1:p.Gln3951His
XM_017022697.1:c.5133G>C	XP_016878186.1:p.Gln1711His
XM_017022698.1:c.5133G>C	XP_016878187.1:p.Gln1711His
NM_004667.6:c.11967G>C MANE Select	NP_004658.3:p.Gln3989His