Canonical Allele Identifier: CA11101308

Gene: ITM2C

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.230868988T>C , CM000664.2:g.230868988T>C	GRCh38
NC_000002.11:g.231733703T>C , CM000664.1:g.231733703T>C	GRCh37
NC_000002.10:g.231441947T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326427.11:c.120+3843T>C MANE Select	ENSP00000322730.6:n.120+3843T>C
ENST00000326407.10:c.120+3843T>C	ENSP00000322100.6:n.120+3843T>C
ENST00000326427.10:c.120+3843T>C	ENSP00000322730.6:n.120+3843T>C
ENST00000335005.10:c.120+3843T>C	ENSP00000335121.6:n.120+3843T>C
ENST00000409704.6:c.-67+3585T>C	ENSP00000387242.2:n.-67+3585T>C
ENST00000418408.2:c.-67+3203T>C	ENSP00000403257.2:n.-67+3203T>C
ENST00000457215.5:c.120+3843T>C	ENSP00000390655.1:n.120+3843T>C
ENST00000541852.5:c.-67+4204T>C	ENSP00000440295.1:n.-67+4204T>C
ENST00000543957.5:c.-67+3602T>C	ENSP00000444899.1:n.-67+3602T>C
NM_001012514.2:c.120+3843T>C	NP_001012532.1:n.120+3843T>C
NM_001012516.2:c.120+3843T>C	NP_001012534.1:n.120+3843T>C
NM_001287240.1:c.-67+4204T>C	NP_001274169.1:n.-67+4204T>C
NM_001287241.1:c.120+3843T>C	NP_001274170.1:n.120+3843T>C
NM_030926.5:c.120+3843T>C	NP_112188.1:n.120+3843T>C
NM_030926.6:c.120+3843T>C MANE Select	NP_112188.1:n.120+3843T>C
NM_001012514.3:c.120+3843T>C	NP_001012532.1:n.120+3843T>C
NM_001287240.2:c.-67+4204T>C	NP_001274169.1:n.-67+4204T>C
NM_001287241.2:c.120+3843T>C	NP_001274170.1:n.120+3843T>C