Canonical Allele Identifier: CA10614881

Gene: SAG

Linked Data

• ClinVar Variation Id: 335077
• ClinVar RCV Id: RCV000261332 ; RCV000369955
• dbSNP Id: rs143418950
• gnomAD v2: 2-234255648-G-A
• gnomAD v3: 2-233347002-G-A
• gnomAD v4: 2-233347002-G-A
• MyVariant Identifiers: chr2:g.234255648G>A (hg19) ; chr2:g.233347002G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233347002G>A , CM000664.2:g.233347002G>A	GRCh38
NC_000002.11:g.234255648G>A , CM000664.1:g.234255648G>A	GRCh37
NC_000002.10:g.233920387G>A	NCBI36
NG_009116.1:g.44340G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409110.6:c.*90G>A MANE Select	ENSP00000386444.1:n.*90G>A
ENST00000409110.5:c.*90G>A	ENSP00000386444.1:n.*90G>A
ENST00000412969.6:n.2528G>A
ENST00000471884.5:n.3339G>A
ENST00000474220.5:n.514G>A
ENST00000476500.5:n.6607G>A
ENST00000492629.1:n.269G>A
NM_000541.4:c.*90G>A	NP_000532.2:n.*90G>A
XM_011511589.1:c.*90G>A	XP_011509891.1:n.*90G>A
XM_011511590.1:c.*90G>A	XP_011509892.1:n.*90G>A
XM_011511591.1:c.*176G>A	XP_011509893.1:n.*176G>A
XM_011511592.1:c.*90G>A	XP_011509894.1:n.*90G>A
XM_011511593.1:c.*90G>A	XP_011509895.1:n.*90G>A
XM_011511594.1:c.*90G>A	XP_011509896.1:n.*90G>A
XM_011511596.1:c.*90G>A	XP_011509898.1:n.*90G>A
XM_011511597.1:c.*90G>A	XP_011509899.1:n.*90G>A
XR_922978.1:n.1625G>A
XR_922980.1:n.1724G>A
XM_011511593.3:c.*90G>A	XP_011509895.1:n.*90G>A
XM_017004641.1:c.*176G>A	XP_016860130.1:n.*176G>A
XM_024453036.1:c.*176G>A	XP_024308804.1:n.*176G>A
XR_001738882.1:n.1506G>A
XR_922980.2:n.1724G>A
NM_000541.5:c.*90G>A MANE Select	NP_000532.2:n.*90G>A