Canonical Allele Identifier: CA391380972

Gene: HERC2

Linked Data

• MyVariant Identifiers: chr15:g.28386609T>A (hg19) ; chr15:g.28141463T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141463T>A , CM000677.2:g.28141463T>A	GRCh38
NC_000015.9:g.28386609T>A , CM000677.1:g.28386609T>A	GRCh37
NC_000015.8:g.26060204T>A	NCBI36
NG_016355.1:g.185687A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11984A>T MANE Select	ENSP00000261609.8:p.Gln3995Leu
ENST00000650509.1:c.3695A>T	ENSP00000496936.1:p.Gln1232Leu
ENST00000261609.11:c.11984A>T	ENSP00000261609.7:p.Gln3995Leu
NM_004667.5:c.11984A>T	NP_004658.3:p.Gln3995Leu
XM_005268276.3:c.11870A>T	XP_005268333.1:p.Gln3957Leu
XM_005268277.3:c.11870A>T	XP_005268334.1:p.Gln3957Leu
XM_006720726.2:c.11969A>T	XP_006720789.1:p.Gln3990Leu
XM_006720727.2:c.11726A>T	XP_006720790.1:p.Gln3909Leu
XM_011522131.1:c.11501A>T	XP_011520433.1:p.Gln3834Leu
XM_011522132.1:c.9500A>T	XP_011520434.1:p.Gln3167Leu
XM_011522133.1:c.8729A>T	XP_011520435.1:p.Gln2910Leu
XM_011522134.1:c.6101A>T	XP_011520436.1:p.Gln2034Leu
XM_005268276.5:c.11870A>T	XP_005268333.1:p.Gln3957Leu
XM_006720726.3:c.11969A>T	XP_006720789.1:p.Gln3990Leu
XM_006720727.3:c.11726A>T	XP_006720790.1:p.Gln3909Leu
XM_017022695.1:c.11870A>T	XP_016878184.1:p.Gln3957Leu
XM_017022696.1:c.11870A>T	XP_016878185.1:p.Gln3957Leu
XM_017022697.1:c.5150A>T	XP_016878186.1:p.Gln1717Leu
XM_017022698.1:c.5150A>T	XP_016878187.1:p.Gln1717Leu
NM_004667.6:c.11984A>T MANE Select	NP_004658.3:p.Gln3995Leu