Canonical Allele Identifier: CA351050271

Gene: SAG

Linked Data

• MyVariant Identifiers: chr2:g.234255467A>G (hg19) ; chr2:g.233346821A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233346821A>G , CM000664.2:g.233346821A>G	GRCh38
NC_000002.11:g.234255467A>G , CM000664.1:g.234255467A>G	GRCh37
NC_000002.10:g.233920206A>G	NCBI36
NG_009116.1:g.44159A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000409110.6:c.1127A>G MANE Select	ENSP00000386444.1:p.Asn376Ser
ENST00000409110.5:c.1127A>G	ENSP00000386444.1:p.Asn376Ser
ENST00000412969.6:n.2347A>G
ENST00000471884.5:n.3158A>G
ENST00000474220.5:n.333A>G
ENST00000476500.5:n.6426A>G
ENST00000492629.1:n.88A>G
NM_000541.4:c.1127A>G	NP_000532.2:p.Asn376Ser
XM_011511589.1:c.1127A>G	XP_011509891.1:p.Asn376Ser
XM_011511590.1:c.1127A>G	XP_011509892.1:p.Asn376Ser
XM_011511591.1:c.1117A>G	XP_011509893.1:p.Ile373Val
XM_011511592.1:c.971A>G	XP_011509894.1:p.Asn324Ser
XM_011511593.1:c.827A>G	XP_011509895.1:p.Asn276Ser
XM_011511594.1:c.755A>G	XP_011509896.1:p.Asn252Ser
XM_011511596.1:c.725A>G	XP_011509898.1:p.Asn242Ser
XM_011511597.1:c.725A>G	XP_011509899.1:p.Asn242Ser
XR_922978.1:n.1444A>G
XR_922979.1:n.1448A>G
XR_922980.1:n.1543A>G
XM_011511593.3:c.827A>G	XP_011509895.1:p.Asn276Ser
XM_017004641.1:c.1117A>G	XP_016860130.1:p.Ile373Val
XM_024453036.1:c.715A>G	XP_024308804.1:p.Ile239Val
XR_001738882.1:n.1325A>G
XR_922980.2:n.1543A>G
NM_000541.5:c.1127A>G MANE Select	NP_000532.2:p.Asn376Ser