Canonical Allele Identifier: CA391380941

Gene: HERC2

Linked Data

• MyVariant Identifiers: chr15:g.28386603A>G (hg19) ; chr15:g.28141457A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141457A>G , CM000677.2:g.28141457A>G	GRCh38
NC_000015.9:g.28386603A>G , CM000677.1:g.28386603A>G	GRCh37
NC_000015.8:g.26060198A>G	NCBI36
NG_016355.1:g.185693T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11990T>C MANE Select	ENSP00000261609.8:p.Leu3997Pro
ENST00000650509.1:c.3701T>C	ENSP00000496936.1:p.Leu1234Pro
ENST00000261609.11:c.11990T>C	ENSP00000261609.7:p.Leu3997Pro
NM_004667.5:c.11990T>C	NP_004658.3:p.Leu3997Pro
XM_005268276.3:c.11876T>C	XP_005268333.1:p.Leu3959Pro
XM_005268277.3:c.11876T>C	XP_005268334.1:p.Leu3959Pro
XM_006720726.2:c.11975T>C	XP_006720789.1:p.Leu3992Pro
XM_006720727.2:c.11732T>C	XP_006720790.1:p.Leu3911Pro
XM_011522131.1:c.11507T>C	XP_011520433.1:p.Leu3836Pro
XM_011522132.1:c.9506T>C	XP_011520434.1:p.Leu3169Pro
XM_011522133.1:c.8735T>C	XP_011520435.1:p.Leu2912Pro
XM_011522134.1:c.6107T>C	XP_011520436.1:p.Leu2036Pro
XM_005268276.5:c.11876T>C	XP_005268333.1:p.Leu3959Pro
XM_006720726.3:c.11975T>C	XP_006720789.1:p.Leu3992Pro
XM_006720727.3:c.11732T>C	XP_006720790.1:p.Leu3911Pro
XM_017022695.1:c.11876T>C	XP_016878184.1:p.Leu3959Pro
XM_017022696.1:c.11876T>C	XP_016878185.1:p.Leu3959Pro
XM_017022697.1:c.5156T>C	XP_016878186.1:p.Leu1719Pro
XM_017022698.1:c.5156T>C	XP_016878187.1:p.Leu1719Pro
NM_004667.6:c.11990T>C MANE Select	NP_004658.3:p.Leu3997Pro