Canonical Allele Identifier: CA391381576

Gene: HERC2

Linked Data

• dbSNP Id: rs1446926287
• gnomAD v3: 15-28141590-T-C
• gnomAD v4: 15-28141590-T-C
• MyVariant Identifiers: chr15:g.28386736T>C (hg19) ; chr15:g.28141590T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141590T>C , CM000677.2:g.28141590T>C	GRCh38
NC_000015.9:g.28386736T>C , CM000677.1:g.28386736T>C	GRCh37
NC_000015.8:g.26060331T>C	NCBI36
NG_016355.1:g.185560A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11857A>G MANE Select	ENSP00000261609.8:p.Thr3953Ala
ENST00000650509.1:c.3568A>G	ENSP00000496936.1:p.Thr1190Ala
ENST00000261609.11:c.11857A>G	ENSP00000261609.7:p.Thr3953Ala
NM_004667.5:c.11857A>G	NP_004658.3:p.Thr3953Ala
XM_005268276.3:c.11743A>G	XP_005268333.1:p.Thr3915Ala
XM_005268277.3:c.11743A>G	XP_005268334.1:p.Thr3915Ala
XM_006720726.2:c.11842A>G	XP_006720789.1:p.Thr3948Ala
XM_006720727.2:c.11599A>G	XP_006720790.1:p.Thr3867Ala
XM_011522131.1:c.11374A>G	XP_011520433.1:p.Thr3792Ala
XM_011522132.1:c.9373A>G	XP_011520434.1:p.Thr3125Ala
XM_011522133.1:c.8602A>G	XP_011520435.1:p.Thr2868Ala
XM_011522134.1:c.5974A>G	XP_011520436.1:p.Thr1992Ala
XM_005268276.5:c.11743A>G	XP_005268333.1:p.Thr3915Ala
XM_006720726.3:c.11842A>G	XP_006720789.1:p.Thr3948Ala
XM_006720727.3:c.11599A>G	XP_006720790.1:p.Thr3867Ala
XM_017022695.1:c.11743A>G	XP_016878184.1:p.Thr3915Ala
XM_017022696.1:c.11743A>G	XP_016878185.1:p.Thr3915Ala
XM_017022697.1:c.5023A>G	XP_016878186.1:p.Thr1675Ala
XM_017022698.1:c.5023A>G	XP_016878187.1:p.Thr1675Ala
NM_004667.6:c.11857A>G MANE Select	NP_004658.3:p.Thr3953Ala