Canonical Allele Identifier: CA391381963

Gene: HERC2

Linked Data

• gnomAD v4: 15-28141803-A-G
• MyVariant Identifiers: chr15:g.28386949A>G (hg19) ; chr15:g.28141803A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141803A>G , CM000677.2:g.28141803A>G	GRCh38
NC_000015.9:g.28386949A>G , CM000677.1:g.28386949A>G	GRCh37
NC_000015.8:g.26060544A>G	NCBI36
NG_016355.1:g.185347T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11744T>C MANE Select	ENSP00000261609.8:p.Met3915Thr
ENST00000650509.1:c.3455T>C	ENSP00000496936.1:p.Met1152Thr
ENST00000261609.11:c.11744T>C	ENSP00000261609.7:p.Met3915Thr
ENST00000564519.1:n.259T>C
NM_004667.5:c.11744T>C	NP_004658.3:p.Met3915Thr
XM_005268276.3:c.11630T>C	XP_005268333.1:p.Met3877Thr
XM_005268277.3:c.11630T>C	XP_005268334.1:p.Met3877Thr
XM_006720726.2:c.11729T>C	XP_006720789.1:p.Met3910Thr
XM_006720727.2:c.11486T>C	XP_006720790.1:p.Met3829Thr
XM_011522131.1:c.11261T>C	XP_011520433.1:p.Met3754Thr
XM_011522132.1:c.9260T>C	XP_011520434.1:p.Met3087Thr
XM_011522133.1:c.8489T>C	XP_011520435.1:p.Met2830Thr
XM_011522134.1:c.5861T>C	XP_011520436.1:p.Met1954Thr
XM_005268276.5:c.11630T>C	XP_005268333.1:p.Met3877Thr
XM_006720726.3:c.11729T>C	XP_006720789.1:p.Met3910Thr
XM_006720727.3:c.11486T>C	XP_006720790.1:p.Met3829Thr
XM_017022695.1:c.11630T>C	XP_016878184.1:p.Met3877Thr
XM_017022696.1:c.11630T>C	XP_016878185.1:p.Met3877Thr
XM_017022697.1:c.4910T>C	XP_016878186.1:p.Met1637Thr
XM_017022698.1:c.4910T>C	XP_016878187.1:p.Met1637Thr
NM_004667.6:c.11744T>C MANE Select	NP_004658.3:p.Met3915Thr