Canonical Allele Identifier: CA7440484

Gene: HERC2

Linked Data

• dbSNP Id: rs150131561
• ExAC: 15:28386981 T / C
• gnomAD v2: 15-28386981-T-C
• gnomAD v3: 15-28141835-T-C
• gnomAD v4: 15-28141835-T-C
• MyVariant Identifiers: chr15:g.28386981T>C (hg19) ; chr15:g.28141835T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141835T>C , CM000677.2:g.28141835T>C	GRCh38
NC_000015.9:g.28386981T>C , CM000677.1:g.28386981T>C	GRCh37
NC_000015.8:g.26060576T>C	NCBI36
NG_016355.1:g.185315A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11712A>G MANE Select	ENSP00000261609.8:p.Lys3904=
ENST00000650509.1:c.3423A>G	ENSP00000496936.1:p.Lys1141=
ENST00000261609.11:c.11712A>G	ENSP00000261609.7:p.Lys3904=
ENST00000564519.1:n.227A>G
NM_004667.5:c.11712A>G	NP_004658.3:p.Lys3904=
XM_005268276.3:c.11598A>G	XP_005268333.1:p.Lys3866=
XM_005268277.3:c.11598A>G	XP_005268334.1:p.Lys3866=
XM_006720726.2:c.11697A>G	XP_006720789.1:p.Lys3899=
XM_006720727.2:c.11454A>G	XP_006720790.1:p.Lys3818=
XM_011522131.1:c.11229A>G	XP_011520433.1:p.Lys3743=
XM_011522132.1:c.9228A>G	XP_011520434.1:p.Lys3076=
XM_011522133.1:c.8457A>G	XP_011520435.1:p.Lys2819=
XM_011522134.1:c.5829A>G	XP_011520436.1:p.Lys1943=
XM_005268276.5:c.11598A>G	XP_005268333.1:p.Lys3866=
XM_006720726.3:c.11697A>G	XP_006720789.1:p.Lys3899=
XM_006720727.3:c.11454A>G	XP_006720790.1:p.Lys3818=
XM_017022695.1:c.11598A>G	XP_016878184.1:p.Lys3866=
XM_017022696.1:c.11598A>G	XP_016878185.1:p.Lys3866=
XM_017022697.1:c.4878A>G	XP_016878186.1:p.Lys1626=
XM_017022698.1:c.4878A>G	XP_016878187.1:p.Lys1626=
NM_004667.6:c.11712A>G MANE Select	NP_004658.3:p.Lys3904=