Canonical Allele Identifier: CA7440473

Gene: HERC2

Linked Data

• dbSNP Id: rs569374388
• ExAC: 15:28386931 C / T
• gnomAD v2: 15-28386931-C-T
• gnomAD v3: 15-28141785-C-T
• gnomAD v4: 15-28141785-C-T
• MyVariant Identifiers: chr15:g.28386931C>T (hg19) ; chr15:g.28141785C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141785C>T , CM000677.2:g.28141785C>T	GRCh38
NC_000015.9:g.28386931C>T , CM000677.1:g.28386931C>T	GRCh37
NC_000015.8:g.26060526C>T	NCBI36
NG_016355.1:g.185365G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11762G>A MANE Select	ENSP00000261609.8:p.Ser3921Asn
ENST00000650509.1:c.3473G>A	ENSP00000496936.1:p.Ser1158Asn
ENST00000261609.11:c.11762G>A	ENSP00000261609.7:p.Ser3921Asn
ENST00000564519.1:n.277G>A
NM_004667.5:c.11762G>A	NP_004658.3:p.Ser3921Asn
XM_005268276.3:c.11648G>A	XP_005268333.1:p.Ser3883Asn
XM_005268277.3:c.11648G>A	XP_005268334.1:p.Ser3883Asn
XM_006720726.2:c.11747G>A	XP_006720789.1:p.Ser3916Asn
XM_006720727.2:c.11504G>A	XP_006720790.1:p.Ser3835Asn
XM_011522131.1:c.11279G>A	XP_011520433.1:p.Ser3760Asn
XM_011522132.1:c.9278G>A	XP_011520434.1:p.Ser3093Asn
XM_011522133.1:c.8507G>A	XP_011520435.1:p.Ser2836Asn
XM_011522134.1:c.5879G>A	XP_011520436.1:p.Ser1960Asn
XM_005268276.5:c.11648G>A	XP_005268333.1:p.Ser3883Asn
XM_006720726.3:c.11747G>A	XP_006720789.1:p.Ser3916Asn
XM_006720727.3:c.11504G>A	XP_006720790.1:p.Ser3835Asn
XM_017022695.1:c.11648G>A	XP_016878184.1:p.Ser3883Asn
XM_017022696.1:c.11648G>A	XP_016878185.1:p.Ser3883Asn
XM_017022697.1:c.4928G>A	XP_016878186.1:p.Ser1643Asn
XM_017022698.1:c.4928G>A	XP_016878187.1:p.Ser1643Asn
NM_004667.6:c.11762G>A MANE Select	NP_004658.3:p.Ser3921Asn