Canonical Allele Identifier: CA391381180

Gene: HERC2

Linked Data

• dbSNP Id: rs750058947
• gnomAD v3: 15-28141497-T-G
• gnomAD v4: 15-28141497-T-G
• MyVariant Identifiers: chr15:g.28386643T>G (hg19) ; chr15:g.28141497T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141497T>G , CM000677.2:g.28141497T>G	GRCh38
NC_000015.9:g.28386643T>G , CM000677.1:g.28386643T>G	GRCh37
NC_000015.8:g.26060238T>G	NCBI36
NG_016355.1:g.185653A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261609.13:c.11950A>C MANE Select	ENSP00000261609.8:p.Thr3984Pro
ENST00000650509.1:c.3661A>C	ENSP00000496936.1:p.Thr1221Pro
ENST00000261609.11:c.11950A>C	ENSP00000261609.7:p.Thr3984Pro
NM_004667.5:c.11950A>C	NP_004658.3:p.Thr3984Pro
XM_005268276.3:c.11836A>C	XP_005268333.1:p.Thr3946Pro
XM_005268277.3:c.11836A>C	XP_005268334.1:p.Thr3946Pro
XM_006720726.2:c.11935A>C	XP_006720789.1:p.Thr3979Pro
XM_006720727.2:c.11692A>C	XP_006720790.1:p.Thr3898Pro
XM_011522131.1:c.11467A>C	XP_011520433.1:p.Thr3823Pro
XM_011522132.1:c.9466A>C	XP_011520434.1:p.Thr3156Pro
XM_011522133.1:c.8695A>C	XP_011520435.1:p.Thr2899Pro
XM_011522134.1:c.6067A>C	XP_011520436.1:p.Thr2023Pro
XM_005268276.5:c.11836A>C	XP_005268333.1:p.Thr3946Pro
XM_006720726.3:c.11935A>C	XP_006720789.1:p.Thr3979Pro
XM_006720727.3:c.11692A>C	XP_006720790.1:p.Thr3898Pro
XM_017022695.1:c.11836A>C	XP_016878184.1:p.Thr3946Pro
XM_017022696.1:c.11836A>C	XP_016878185.1:p.Thr3946Pro
XM_017022697.1:c.5116A>C	XP_016878186.1:p.Thr1706Pro
XM_017022698.1:c.5116A>C	XP_016878187.1:p.Thr1706Pro
NM_004667.6:c.11950A>C MANE Select	NP_004658.3:p.Thr3984Pro