Canonical Allele Identifier: CA391380964

Gene: HERC2

Linked Data

• MyVariant Identifiers: chr15:g.28386607T>C (hg19) ; chr15:g.28141461T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141461T>C , CM000677.2:g.28141461T>C	GRCh38
NC_000015.9:g.28386607T>C , CM000677.1:g.28386607T>C	GRCh37
NC_000015.8:g.26060202T>C	NCBI36
NG_016355.1:g.185689A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11986A>G MANE Select	ENSP00000261609.8:p.Thr3996Ala
ENST00000650509.1:c.3697A>G	ENSP00000496936.1:p.Thr1233Ala
ENST00000261609.11:c.11986A>G	ENSP00000261609.7:p.Thr3996Ala
NM_004667.5:c.11986A>G	NP_004658.3:p.Thr3996Ala
XM_005268276.3:c.11872A>G	XP_005268333.1:p.Thr3958Ala
XM_005268277.3:c.11872A>G	XP_005268334.1:p.Thr3958Ala
XM_006720726.2:c.11971A>G	XP_006720789.1:p.Thr3991Ala
XM_006720727.2:c.11728A>G	XP_006720790.1:p.Thr3910Ala
XM_011522131.1:c.11503A>G	XP_011520433.1:p.Thr3835Ala
XM_011522132.1:c.9502A>G	XP_011520434.1:p.Thr3168Ala
XM_011522133.1:c.8731A>G	XP_011520435.1:p.Thr2911Ala
XM_011522134.1:c.6103A>G	XP_011520436.1:p.Thr2035Ala
XM_005268276.5:c.11872A>G	XP_005268333.1:p.Thr3958Ala
XM_006720726.3:c.11971A>G	XP_006720789.1:p.Thr3991Ala
XM_006720727.3:c.11728A>G	XP_006720790.1:p.Thr3910Ala
XM_017022695.1:c.11872A>G	XP_016878184.1:p.Thr3958Ala
XM_017022696.1:c.11872A>G	XP_016878185.1:p.Thr3958Ala
XM_017022697.1:c.5152A>G	XP_016878186.1:p.Thr1718Ala
XM_017022698.1:c.5152A>G	XP_016878187.1:p.Thr1718Ala
NM_004667.6:c.11986A>G MANE Select	NP_004658.3:p.Thr3996Ala