Canonical Allele Identifier: CA391381943

Gene: HERC2

Linked Data

• MyVariant Identifiers: chr15:g.28386940A>C (hg19) ; chr15:g.28141794A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141794A>C , CM000677.2:g.28141794A>C	GRCh38
NC_000015.9:g.28386940A>C , CM000677.1:g.28386940A>C	GRCh37
NC_000015.8:g.26060535A>C	NCBI36
NG_016355.1:g.185356T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11753T>G MANE Select	ENSP00000261609.8:p.Leu3918Arg
ENST00000650509.1:c.3464T>G	ENSP00000496936.1:p.Leu1155Arg
ENST00000261609.11:c.11753T>G	ENSP00000261609.7:p.Leu3918Arg
ENST00000564519.1:n.268T>G
NM_004667.5:c.11753T>G	NP_004658.3:p.Leu3918Arg
XM_005268276.3:c.11639T>G	XP_005268333.1:p.Leu3880Arg
XM_005268277.3:c.11639T>G	XP_005268334.1:p.Leu3880Arg
XM_006720726.2:c.11738T>G	XP_006720789.1:p.Leu3913Arg
XM_006720727.2:c.11495T>G	XP_006720790.1:p.Leu3832Arg
XM_011522131.1:c.11270T>G	XP_011520433.1:p.Leu3757Arg
XM_011522132.1:c.9269T>G	XP_011520434.1:p.Leu3090Arg
XM_011522133.1:c.8498T>G	XP_011520435.1:p.Leu2833Arg
XM_011522134.1:c.5870T>G	XP_011520436.1:p.Leu1957Arg
XM_005268276.5:c.11639T>G	XP_005268333.1:p.Leu3880Arg
XM_006720726.3:c.11738T>G	XP_006720789.1:p.Leu3913Arg
XM_006720727.3:c.11495T>G	XP_006720790.1:p.Leu3832Arg
XM_017022695.1:c.11639T>G	XP_016878184.1:p.Leu3880Arg
XM_017022696.1:c.11639T>G	XP_016878185.1:p.Leu3880Arg
XM_017022697.1:c.4919T>G	XP_016878186.1:p.Leu1640Arg
XM_017022698.1:c.4919T>G	XP_016878187.1:p.Leu1640Arg
NM_004667.6:c.11753T>G MANE Select	NP_004658.3:p.Leu3918Arg