Canonical Allele Identifier: CA391382032

Gene: HERC2

Linked Data

• MyVariant Identifiers: chr15:g.28386980T>A (hg19) ; chr15:g.28141834T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141834T>A , CM000677.2:g.28141834T>A	GRCh38
NC_000015.9:g.28386980T>A , CM000677.1:g.28386980T>A	GRCh37
NC_000015.8:g.26060575T>A	NCBI36
NG_016355.1:g.185316A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11713A>T MANE Select	ENSP00000261609.8:p.Ile3905Phe
ENST00000650509.1:c.3424A>T	ENSP00000496936.1:p.Ile1142Phe
ENST00000261609.11:c.11713A>T	ENSP00000261609.7:p.Ile3905Phe
ENST00000564519.1:n.228A>T
NM_004667.5:c.11713A>T	NP_004658.3:p.Ile3905Phe
XM_005268276.3:c.11599A>T	XP_005268333.1:p.Ile3867Phe
XM_005268277.3:c.11599A>T	XP_005268334.1:p.Ile3867Phe
XM_006720726.2:c.11698A>T	XP_006720789.1:p.Ile3900Phe
XM_006720727.2:c.11455A>T	XP_006720790.1:p.Ile3819Phe
XM_011522131.1:c.11230A>T	XP_011520433.1:p.Ile3744Phe
XM_011522132.1:c.9229A>T	XP_011520434.1:p.Ile3077Phe
XM_011522133.1:c.8458A>T	XP_011520435.1:p.Ile2820Phe
XM_011522134.1:c.5830A>T	XP_011520436.1:p.Ile1944Phe
XM_005268276.5:c.11599A>T	XP_005268333.1:p.Ile3867Phe
XM_006720726.3:c.11698A>T	XP_006720789.1:p.Ile3900Phe
XM_006720727.3:c.11455A>T	XP_006720790.1:p.Ile3819Phe
XM_017022695.1:c.11599A>T	XP_016878184.1:p.Ile3867Phe
XM_017022696.1:c.11599A>T	XP_016878185.1:p.Ile3867Phe
XM_017022697.1:c.4879A>T	XP_016878186.1:p.Ile1627Phe
XM_017022698.1:c.4879A>T	XP_016878187.1:p.Ile1627Phe
NM_004667.6:c.11713A>T MANE Select	NP_004658.3:p.Ile3905Phe