Canonical Allele Identifier: CA351050274

Gene: SAG

Linked Data

• MyVariant Identifiers: chr2:g.234255468T>G (hg19) ; chr2:g.233346822T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233346822T>G , CM000664.2:g.233346822T>G	GRCh38
NC_000002.11:g.234255468T>G , CM000664.1:g.234255468T>G	GRCh37
NC_000002.10:g.233920207T>G	NCBI36
NG_009116.1:g.44160T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000409110.6:c.1128T>G MANE Select	ENSP00000386444.1:p.Asn376Lys
ENST00000409110.5:c.1128T>G	ENSP00000386444.1:p.Asn376Lys
ENST00000412969.6:n.2348T>G
ENST00000471884.5:n.3159T>G
ENST00000474220.5:n.334T>G
ENST00000476500.5:n.6427T>G
ENST00000492629.1:n.89T>G
NM_000541.4:c.1128T>G	NP_000532.2:p.Asn376Lys
XM_011511589.1:c.1128T>G	XP_011509891.1:p.Asn376Lys
XM_011511590.1:c.1128T>G	XP_011509892.1:p.Asn376Lys
XM_011511591.1:c.1118T>G	XP_011509893.1:p.Ile373Ser
XM_011511592.1:c.972T>G	XP_011509894.1:p.Asn324Lys
XM_011511593.1:c.828T>G	XP_011509895.1:p.Asn276Lys
XM_011511594.1:c.756T>G	XP_011509896.1:p.Asn252Lys
XM_011511596.1:c.726T>G	XP_011509898.1:p.Asn242Lys
XM_011511597.1:c.726T>G	XP_011509899.1:p.Asn242Lys
XR_922978.1:n.1445T>G
XR_922979.1:n.1449T>G
XR_922980.1:n.1544T>G
XM_011511593.3:c.828T>G	XP_011509895.1:p.Asn276Lys
XM_017004641.1:c.1118T>G	XP_016860130.1:p.Ile373Ser
XM_024453036.1:c.716T>G	XP_024308804.1:p.Ile239Ser
XR_001738882.1:n.1326T>G
XR_922980.2:n.1544T>G
NM_000541.5:c.1128T>G MANE Select	NP_000532.2:p.Asn376Lys