Canonical Allele Identifier: CA431825640
Gene: SAG HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.234255534A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233346888A>G , CM000664.2:g.233346888A>G GRCh38
NC_000002.11:g.234255534A>G , CM000664.1:g.234255534A>G GRCh37
NC_000002.10:g.233920273A>G NCBI36
NG_009116.1:g.44226A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409110.6:c.1194A>G MANE Select ENSP00000386444.1:p.Arg398=
ENST00000409110.5:c.1194A>G ENSP00000386444.1:p.Arg398=
ENST00000412969.6:n.2414A>G
ENST00000471884.5:n.3225A>G
ENST00000474220.5:n.400A>G
ENST00000476500.5:n.6493A>G
ENST00000492629.1:n.155A>G
NM_000541.4:c.1194A>G NP_000532.2:p.Arg398=
XM_011511589.1:c.1194A>G XP_011509891.1:p.Arg398=
XM_011511590.1:c.1194A>G XP_011509892.1:p.Arg398=
XM_011511591.1:c.*62A>G XP_011509893.1:n.*62A>G
XM_011511592.1:c.1038A>G XP_011509894.1:p.Arg346=
XM_011511593.1:c.894A>G XP_011509895.1:p.Arg298=
XM_011511594.1:c.822A>G XP_011509896.1:p.Arg274=
XM_011511596.1:c.792A>G XP_011509898.1:p.Arg264=
XM_011511597.1:c.792A>G XP_011509899.1:p.Arg264=
XR_922978.1:n.1511A>G
XR_922980.1:n.1610A>G
XM_011511593.3:c.894A>G XP_011509895.1:p.Arg298=
XM_017004641.1:c.*62A>G XP_016860130.1:n.*62A>G
XM_024453036.1:c.*62A>G XP_024308804.1:n.*62A>G
XR_001738882.1:n.1392A>G
XR_922980.2:n.1610A>G
NM_000541.5:c.1194A>G MANE Select NP_000532.2:p.Arg398=