Canonical Allele Identifier: CA391380933

Gene: HERC2

Linked Data

• MyVariant Identifiers: chr15:g.28386601A>C (hg19) ; chr15:g.28141455A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141455A>C , CM000677.2:g.28141455A>C	GRCh38
NC_000015.9:g.28386601A>C , CM000677.1:g.28386601A>C	GRCh37
NC_000015.8:g.26060196A>C	NCBI36
NG_016355.1:g.185695T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11992T>G MANE Select	ENSP00000261609.8:p.Phe3998Val
ENST00000650509.1:c.3703T>G	ENSP00000496936.1:p.Phe1235Val
ENST00000261609.11:c.11992T>G	ENSP00000261609.7:p.Phe3998Val
NM_004667.5:c.11992T>G	NP_004658.3:p.Phe3998Val
XM_005268276.3:c.11878T>G	XP_005268333.1:p.Phe3960Val
XM_005268277.3:c.11878T>G	XP_005268334.1:p.Phe3960Val
XM_006720726.2:c.11977T>G	XP_006720789.1:p.Phe3993Val
XM_006720727.2:c.11734T>G	XP_006720790.1:p.Phe3912Val
XM_011522131.1:c.11509T>G	XP_011520433.1:p.Phe3837Val
XM_011522132.1:c.9508T>G	XP_011520434.1:p.Phe3170Val
XM_011522133.1:c.8737T>G	XP_011520435.1:p.Phe2913Val
XM_011522134.1:c.6109T>G	XP_011520436.1:p.Phe2037Val
XM_005268276.5:c.11878T>G	XP_005268333.1:p.Phe3960Val
XM_006720726.3:c.11977T>G	XP_006720789.1:p.Phe3993Val
XM_006720727.3:c.11734T>G	XP_006720790.1:p.Phe3912Val
XM_017022695.1:c.11878T>G	XP_016878184.1:p.Phe3960Val
XM_017022696.1:c.11878T>G	XP_016878185.1:p.Phe3960Val
XM_017022697.1:c.5158T>G	XP_016878186.1:p.Phe1720Val
XM_017022698.1:c.5158T>G	XP_016878187.1:p.Phe1720Val
NM_004667.6:c.11992T>G MANE Select	NP_004658.3:p.Phe3998Val