Canonical Allele Identifier: CA7440477

Gene: HERC2

Linked Data

• dbSNP Id: rs779056407
• ExAC: 15:28386957 G / A
• gnomAD v2: 15-28386957-G-A
• gnomAD v3: 15-28141811-G-A
• gnomAD v4: 15-28141811-G-A
• MyVariant Identifiers: chr15:g.28386957G>A (hg19) ; chr15:g.28141811G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141811G>A , CM000677.2:g.28141811G>A	GRCh38
NC_000015.9:g.28386957G>A , CM000677.1:g.28386957G>A	GRCh37
NC_000015.8:g.26060552G>A	NCBI36
NG_016355.1:g.185339C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11736C>T MANE Select	ENSP00000261609.8:p.Ser3912=
ENST00000650509.1:c.3447C>T	ENSP00000496936.1:p.Ser1149=
ENST00000261609.11:c.11736C>T	ENSP00000261609.7:p.Ser3912=
ENST00000564519.1:n.251C>T
NM_004667.5:c.11736C>T	NP_004658.3:p.Ser3912=
XM_005268276.3:c.11622C>T	XP_005268333.1:p.Ser3874=
XM_005268277.3:c.11622C>T	XP_005268334.1:p.Ser3874=
XM_006720726.2:c.11721C>T	XP_006720789.1:p.Ser3907=
XM_006720727.2:c.11478C>T	XP_006720790.1:p.Ser3826=
XM_011522131.1:c.11253C>T	XP_011520433.1:p.Ser3751=
XM_011522132.1:c.9252C>T	XP_011520434.1:p.Ser3084=
XM_011522133.1:c.8481C>T	XP_011520435.1:p.Ser2827=
XM_011522134.1:c.5853C>T	XP_011520436.1:p.Ser1951=
XM_005268276.5:c.11622C>T	XP_005268333.1:p.Ser3874=
XM_006720726.3:c.11721C>T	XP_006720789.1:p.Ser3907=
XM_006720727.3:c.11478C>T	XP_006720790.1:p.Ser3826=
XM_017022695.1:c.11622C>T	XP_016878184.1:p.Ser3874=
XM_017022696.1:c.11622C>T	XP_016878185.1:p.Ser3874=
XM_017022697.1:c.4902C>T	XP_016878186.1:p.Ser1634=
XM_017022698.1:c.4902C>T	XP_016878187.1:p.Ser1634=
NM_004667.6:c.11736C>T MANE Select	NP_004658.3:p.Ser3912=