Canonical Allele Identifier: CA391381961

Gene: HERC2

Linked Data

• dbSNP Id: rs1204293861
• gnomAD v2: 15-28386948-C-A
• gnomAD v4: 15-28141802-C-A
• MyVariant Identifiers: chr15:g.28386948C>A (hg19) ; chr15:g.28141802C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141802C>A , CM000677.2:g.28141802C>A	GRCh38
NC_000015.9:g.28386948C>A , CM000677.1:g.28386948C>A	GRCh37
NC_000015.8:g.26060543C>A	NCBI36
NG_016355.1:g.185348G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11745G>T MANE Select	ENSP00000261609.8:p.Met3915Ile
ENST00000650509.1:c.3456G>T	ENSP00000496936.1:p.Met1152Ile
ENST00000261609.11:c.11745G>T	ENSP00000261609.7:p.Met3915Ile
ENST00000564519.1:n.260G>T
NM_004667.5:c.11745G>T	NP_004658.3:p.Met3915Ile
XM_005268276.3:c.11631G>T	XP_005268333.1:p.Met3877Ile
XM_005268277.3:c.11631G>T	XP_005268334.1:p.Met3877Ile
XM_006720726.2:c.11730G>T	XP_006720789.1:p.Met3910Ile
XM_006720727.2:c.11487G>T	XP_006720790.1:p.Met3829Ile
XM_011522131.1:c.11262G>T	XP_011520433.1:p.Met3754Ile
XM_011522132.1:c.9261G>T	XP_011520434.1:p.Met3087Ile
XM_011522133.1:c.8490G>T	XP_011520435.1:p.Met2830Ile
XM_011522134.1:c.5862G>T	XP_011520436.1:p.Met1954Ile
XM_005268276.5:c.11631G>T	XP_005268333.1:p.Met3877Ile
XM_006720726.3:c.11730G>T	XP_006720789.1:p.Met3910Ile
XM_006720727.3:c.11487G>T	XP_006720790.1:p.Met3829Ile
XM_017022695.1:c.11631G>T	XP_016878184.1:p.Met3877Ile
XM_017022696.1:c.11631G>T	XP_016878185.1:p.Met3877Ile
XM_017022697.1:c.4911G>T	XP_016878186.1:p.Met1637Ile
XM_017022698.1:c.4911G>T	XP_016878187.1:p.Met1637Ile
NM_004667.6:c.11745G>T MANE Select	NP_004658.3:p.Met3915Ile