Canonical Allele Identifier: CA2174712

Gene: SAG

Linked Data

• ClinVar Variation Id: 1010317
• ClinVar RCV Id: RCV001307924
• dbSNP Id: rs371537485
• ExAC: 2:234255466 A / G
• gnomAD v2: 2-234255466-A-G
• gnomAD v3: 2-233346820-A-G
• gnomAD v4: 2-233346820-A-G
• MyVariant Identifiers: chr2:g.234255466A>G (hg19) ; chr2:g.233346820A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233346820A>G , CM000664.2:g.233346820A>G	GRCh38
NC_000002.11:g.234255466A>G , CM000664.1:g.234255466A>G	GRCh37
NC_000002.10:g.233920205A>G	NCBI36
NG_009116.1:g.44158A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000409110.6:c.1126A>G MANE Select	ENSP00000386444.1:p.Asn376Asp
ENST00000409110.5:c.1126A>G	ENSP00000386444.1:p.Asn376Asp
ENST00000412969.6:n.2346A>G
ENST00000471884.5:n.3157A>G
ENST00000474220.5:n.332A>G
ENST00000476500.5:n.6425A>G
ENST00000492629.1:n.87A>G
NM_000541.4:c.1126A>G	NP_000532.2:p.Asn376Asp
XM_011511589.1:c.1126A>G	XP_011509891.1:p.Asn376Asp
XM_011511590.1:c.1126A>G	XP_011509892.1:p.Asn376Asp
XM_011511591.1:c.1116A>G	XP_011509893.1:p.Gln372=
XM_011511592.1:c.970A>G	XP_011509894.1:p.Asn324Asp
XM_011511593.1:c.826A>G	XP_011509895.1:p.Asn276Asp
XM_011511594.1:c.754A>G	XP_011509896.1:p.Asn252Asp
XM_011511596.1:c.724A>G	XP_011509898.1:p.Asn242Asp
XM_011511597.1:c.724A>G	XP_011509899.1:p.Asn242Asp
XR_922978.1:n.1443A>G
XR_922979.1:n.1447A>G
XR_922980.1:n.1542A>G
XM_011511593.3:c.826A>G	XP_011509895.1:p.Asn276Asp
XM_017004641.1:c.1116A>G	XP_016860130.1:p.Gln372=
XM_024453036.1:c.714A>G	XP_024308804.1:p.Gln238=
XR_001738882.1:n.1324A>G
XR_922980.2:n.1542A>G
NM_000541.5:c.1126A>G MANE Select	NP_000532.2:p.Asn376Asp