Canonical Allele Identifier: CA571503873
Gene: SOD2 HGNC NCBI

Linked Data

dbSNP Id: rs1191159052
gnomAD v2: 6-160098185-A-G
gnomAD v3: 6-159677153-A-G
gnomAD v4: 6-159677153-A-G
MyVariant Identifiers: chr6:g.160098185A>G (hg19) chr6:g.159677153A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.159677153A>G , CM000668.2:g.159677153A>G GRCh38
NC_000006.11:g.160098185A>G , CM000668.1:g.160098185A>G GRCh37
NC_000006.10:g.160018175A>G NCBI36
NG_008729.1:g.21169T>C
NG_008729.3:g.90377T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000538183.7:c.*5340T>C MANE Select ENSP00000446252.1:n.*5340T>C
ENST00000538183.6:c.*5340T>C ENSP00000446252.1:n.*5340T>C
NM_000636.4:c.*5340T>C MANE Select NP_000627.2:n.*5340T>C
NM_001322814.2:c.*5340T>C NP_001309743.1:n.*5340T>C
NM_001322815.2:c.*5340T>C NP_001309744.1:n.*5340T>C
NM_001322819.2:c.*5340T>C NP_001309748.1:n.*5340T>C
NM_001322820.2:c.*5340T>C NP_001309749.1:n.*5340T>C
Search 100 bp 5'
Search 100 bp 3'