Canonical Allele Identifier: CA2838472916

Gene: MAN2C1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.75361011G>T , CM000677.2:g.75361011G>T	GRCh38
NC_000015.9:g.75653352G>T , CM000677.1:g.75653352G>T	GRCh37
NC_000015.8:g.73440405G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267978.10:c.1460+35C>A MANE Select	ENSP00000267978.4:n.1460+35C>A
ENST00000267978.9:c.1460+35C>A	ENSP00000267978.4:n.1460+35C>A
ENST00000562228.5:n.677+35C>A
ENST00000562461.1:n.52C>A
ENST00000563058.5:n.536C>A
ENST00000563441.5:n.1356+35C>A
ENST00000563622.5:c.1163+35C>A	ENSP00000454589.1:n.1163+35C>A
ENST00000564785.5:n.1544C>A
ENST00000565683.5:c.1460+35C>A	ENSP00000457788.1:n.1460+35C>A
ENST00000566634.5:c.*799+35C>A	ENSP00000456914.1:n.*799+35C>A
ENST00000569482.5:c.1460+35C>A	ENSP00000455998.1:n.1460+35C>A
NM_001256494.1:c.1460+35C>A	NP_001243423.1:n.1460+35C>A
NM_001256495.1:c.1460+35C>A	NP_001243424.1:n.1460+35C>A
NM_001256496.1:c.1163+35C>A	NP_001243425.1:n.1163+35C>A
NM_006715.3:c.1460+35C>A	NP_006706.2:n.1460+35C>A
XM_005254384.1:c.1460+35C>A	XP_005254441.1:n.1460+35C>A
XM_011521567.1:c.1460+35C>A	XP_011519869.1:n.1460+35C>A
XM_011521568.1:c.1163+35C>A	XP_011519870.1:n.1163+35C>A
XM_011521569.1:c.980+35C>A	XP_011519871.1:n.980+35C>A
XM_011521570.1:c.602+35C>A	XP_011519872.1:n.602+35C>A
XR_931832.1:n.1991+35C>A
XR_931833.1:n.1991+35C>A
XR_931834.1:n.1991+35C>A
XR_931835.1:n.1991+35C>A
XM_005254384.3:c.1460+35C>A	XP_005254441.1:n.1460+35C>A
XM_017022186.1:c.1505+35C>A	XP_016877675.1:n.1505+35C>A
XM_017022187.1:c.1505+35C>A	XP_016877676.1:n.1505+35C>A
XM_017022188.2:c.1163+35C>A	XP_016877677.1:n.1163+35C>A
XR_001751282.1:n.1852+35C>A
XR_001751283.1:n.1852+35C>A
XR_001751284.1:n.1852+35C>A
XR_001751285.1:n.1852+35C>A
XR_001751286.1:n.1852+35C>A
XR_001751287.1:n.1852+35C>A
XR_001751288.1:n.1852+35C>A
XR_002957638.1:n.1852+35C>A
XR_002957639.1:n.1286+35C>A
NM_006715.4:c.1460+35C>A MANE Select	NP_006706.2:n.1460+35C>A
NM_001256494.2:c.1460+35C>A	NP_001243423.1:n.1460+35C>A
NM_001256495.2:c.1460+35C>A	NP_001243424.1:n.1460+35C>A
NM_001256496.2:c.1163+35C>A	NP_001243425.1:n.1163+35C>A