Canonical Allele Identifier: CA391381944

Gene: HERC2

Linked Data

• dbSNP Id: rs1261325570
• gnomAD v4: 15-28141794-A-G
• MyVariant Identifiers: chr15:g.28386940A>G (hg19) ; chr15:g.28141794A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141794A>G , CM000677.2:g.28141794A>G	GRCh38
NC_000015.9:g.28386940A>G , CM000677.1:g.28386940A>G	GRCh37
NC_000015.8:g.26060535A>G	NCBI36
NG_016355.1:g.185356T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11753T>C MANE Select	ENSP00000261609.8:p.Leu3918Pro
ENST00000650509.1:c.3464T>C	ENSP00000496936.1:p.Leu1155Pro
ENST00000261609.11:c.11753T>C	ENSP00000261609.7:p.Leu3918Pro
ENST00000564519.1:n.268T>C
NM_004667.5:c.11753T>C	NP_004658.3:p.Leu3918Pro
XM_005268276.3:c.11639T>C	XP_005268333.1:p.Leu3880Pro
XM_005268277.3:c.11639T>C	XP_005268334.1:p.Leu3880Pro
XM_006720726.2:c.11738T>C	XP_006720789.1:p.Leu3913Pro
XM_006720727.2:c.11495T>C	XP_006720790.1:p.Leu3832Pro
XM_011522131.1:c.11270T>C	XP_011520433.1:p.Leu3757Pro
XM_011522132.1:c.9269T>C	XP_011520434.1:p.Leu3090Pro
XM_011522133.1:c.8498T>C	XP_011520435.1:p.Leu2833Pro
XM_011522134.1:c.5870T>C	XP_011520436.1:p.Leu1957Pro
XM_005268276.5:c.11639T>C	XP_005268333.1:p.Leu3880Pro
XM_006720726.3:c.11738T>C	XP_006720789.1:p.Leu3913Pro
XM_006720727.3:c.11495T>C	XP_006720790.1:p.Leu3832Pro
XM_017022695.1:c.11639T>C	XP_016878184.1:p.Leu3880Pro
XM_017022696.1:c.11639T>C	XP_016878185.1:p.Leu3880Pro
XM_017022697.1:c.4919T>C	XP_016878186.1:p.Leu1640Pro
XM_017022698.1:c.4919T>C	XP_016878187.1:p.Leu1640Pro
NM_004667.6:c.11753T>C MANE Select	NP_004658.3:p.Leu3918Pro