Canonical Allele Identifier: CA130897

Gene: SAG

Linked Data

• ClinVar Variation Id: 41897
• ClinVar RCV Id: RCV000034823 ; RCV001389455 ; RCV001807748
• dbSNP Id: rs397514681
• ExAC: 2:234243675 C / T
• gnomAD v2: 2-234243675-C-T
• gnomAD v3: 2-233335029-C-T
• gnomAD v4: 2-233335029-C-T
• MyVariant Identifiers: chr2:g.234243675C>T (hg19) ; chr2:g.233335029C>T (hg38)
• PubMed: PMID:15234147

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233335029C>T , CM000664.2:g.233335029C>T	GRCh38
NC_000002.11:g.234243675C>T , CM000664.1:g.234243675C>T	GRCh37
NC_000002.10:g.233908414C>T	NCBI36
NG_009116.1:g.32367C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000409110.6:c.874C>T MANE Select	ENSP00000386444.1:p.Arg292Ter
ENST00000409110.5:c.874C>T	ENSP00000386444.1:p.Arg292Ter
ENST00000412969.6:n.2094C>T
ENST00000469222.5:n.891C>T
ENST00000471884.5:n.2905C>T
ENST00000473771.1:n.314C>T
ENST00000476500.5:n.6173C>T
ENST00000483231.5:n.258C>T
NM_000541.4:c.874C>T	NP_000532.2:p.Arg292Ter
XM_011511589.1:c.874C>T	XP_011509891.1:p.Arg292Ter
XM_011511590.1:c.874C>T	XP_011509892.1:p.Arg292Ter
XM_011511591.1:c.874C>T	XP_011509893.1:p.Arg292Ter
XM_011511592.1:c.718C>T	XP_011509894.1:p.Arg240Ter
XM_011511593.1:c.574C>T	XP_011509895.1:p.Arg192Ter
XM_011511594.1:c.502C>T	XP_011509896.1:p.Arg168Ter
XM_011511596.1:c.472C>T	XP_011509898.1:p.Arg158Ter
XM_011511597.1:c.472C>T	XP_011509899.1:p.Arg158Ter
XR_922978.1:n.1070C>T
XR_922979.1:n.1070C>T
XR_922980.1:n.1169C>T
XM_011511593.3:c.574C>T	XP_011509895.1:p.Arg192Ter
XM_017004641.1:c.874C>T	XP_016860130.1:p.Arg292Ter
XM_017004642.1:c.874C>T	XP_016860131.1:p.Arg292Ter
XM_024453036.1:c.472C>T	XP_024308804.1:p.Arg158Ter
XR_001738882.1:n.951C>T
XR_922980.2:n.1169C>T
NM_000541.5:c.874C>T MANE Select	NP_000532.2:p.Arg292Ter