Canonical Allele Identifier: CA2502852230

Gene: SOD2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.159677024G>C , CM000668.2:g.159677024G>C	GRCh38
NC_000006.11:g.160098056G>C , CM000668.1:g.160098056G>C	GRCh37
NC_000006.10:g.160018046G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000538183.7:c.*5469C>G MANE Select	ENSP00000446252.1:n.*5469C>G
ENST00000538183.6:c.*5469C>G	ENSP00000446252.1:n.*5469C>G
NM_000636.4:c.*5469C>G MANE Select	NP_000627.2:n.*5469C>G
NM_001322814.2:c.*5469C>G	NP_001309743.1:n.*5469C>G
NM_001322815.2:c.*5469C>G	NP_001309744.1:n.*5469C>G
NM_001322819.2:c.*5469C>G	NP_001309748.1:n.*5469C>G
NM_001322820.2:c.*5469C>G	NP_001309749.1:n.*5469C>G