Canonical Allele Identifier: CA391381174

Gene: HERC2

Linked Data

• dbSNP Id: rs1304907149
• gnomAD v2: 15-28386642-G-C
• gnomAD v3: 15-28141496-G-C
• gnomAD v4: 15-28141496-G-C
• MyVariant Identifiers: chr15:g.28386642G>C (hg19) ; chr15:g.28141496G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141496G>C , CM000677.2:g.28141496G>C	GRCh38
NC_000015.9:g.28386642G>C , CM000677.1:g.28386642G>C	GRCh37
NC_000015.8:g.26060237G>C	NCBI36
NG_016355.1:g.185654C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261609.13:c.11951C>G MANE Select	ENSP00000261609.8:p.Thr3984Ser
ENST00000650509.1:c.3662C>G	ENSP00000496936.1:p.Thr1221Ser
ENST00000261609.11:c.11951C>G	ENSP00000261609.7:p.Thr3984Ser
NM_004667.5:c.11951C>G	NP_004658.3:p.Thr3984Ser
XM_005268276.3:c.11837C>G	XP_005268333.1:p.Thr3946Ser
XM_005268277.3:c.11837C>G	XP_005268334.1:p.Thr3946Ser
XM_006720726.2:c.11936C>G	XP_006720789.1:p.Thr3979Ser
XM_006720727.2:c.11693C>G	XP_006720790.1:p.Thr3898Ser
XM_011522131.1:c.11468C>G	XP_011520433.1:p.Thr3823Ser
XM_011522132.1:c.9467C>G	XP_011520434.1:p.Thr3156Ser
XM_011522133.1:c.8696C>G	XP_011520435.1:p.Thr2899Ser
XM_011522134.1:c.6068C>G	XP_011520436.1:p.Thr2023Ser
XM_005268276.5:c.11837C>G	XP_005268333.1:p.Thr3946Ser
XM_006720726.3:c.11936C>G	XP_006720789.1:p.Thr3979Ser
XM_006720727.3:c.11693C>G	XP_006720790.1:p.Thr3898Ser
XM_017022695.1:c.11837C>G	XP_016878184.1:p.Thr3946Ser
XM_017022696.1:c.11837C>G	XP_016878185.1:p.Thr3946Ser
XM_017022697.1:c.5117C>G	XP_016878186.1:p.Thr1706Ser
XM_017022698.1:c.5117C>G	XP_016878187.1:p.Thr1706Ser
NM_004667.6:c.11951C>G MANE Select	NP_004658.3:p.Thr3984Ser