Canonical Allele Identifier: CA7441956

Gene: HERC2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28213799G>A , CM000677.2:g.28213799G>A	GRCh38
NC_000015.9:g.28458945G>A , CM000677.1:g.28458945G>A	GRCh37
NC_000015.8:g.26132540G>A	NCBI36
NG_016355.1:g.113351C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004667.6:c.6729C>T MANE Select	NP_004658.3:p.Thr2243=
ENST00000261609.13:c.6729C>T MANE Select	ENSP00000261609.8:p.Thr2243=
NM_004667.5:c.6729C>T	NP_004658.3:p.Thr2243=
ENST00000261609.11:c.6729C>T	ENSP00000261609.7:p.Thr2243=
XM_005268276.3:c.6615C>T	XP_005268333.1:p.Thr2205=
XM_005268276.5:c.6615C>T	XP_005268333.1:p.Thr2205=
XM_005268277.3:c.6615C>T	XP_005268334.1:p.Thr2205=
XM_006720726.2:c.6714C>T	XP_006720789.1:p.Thr2238=
XM_006720726.3:c.6714C>T	XP_006720789.1:p.Thr2238=
XM_006720727.2:c.6471C>T	XP_006720790.1:p.Thr2157=
XM_006720727.3:c.6471C>T	XP_006720790.1:p.Thr2157=
XM_011522131.1:c.6246C>T	XP_011520433.1:p.Thr2082=
XM_011522132.1:c.4245C>T	XP_011520434.1:p.Thr1415=
XM_011522133.1:c.3474C>T	XP_011520435.1:p.Thr1158=
XM_011522134.1:c.846C>T	XP_011520436.1:p.Thr282=
XM_011522135.1:c.6729C>T	XP_011520437.1:p.Thr2243=
XM_011522136.1:c.6729C>T	XP_011520438.1:p.Thr2243=
XM_011522137.1:c.6729C>T	XP_011520439.1:p.Thr2243=
XM_017022695.1:c.6615C>T	XP_016878184.1:p.Thr2205=
XM_017022696.1:c.6615C>T	XP_016878185.1:p.Thr2205=
XR_001751410.1:n.6859C>T
XR_931930.1:n.6858C>T
XR_931930.2:n.6859C>T
XR_931931.1:n.6858C>T