Canonical Allele Identifier: CA351050662

Gene: SAG

Linked Data

• MyVariant Identifiers: chr2:g.234255557G>C (hg19) ; chr2:g.233346911G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233346911G>C , CM000664.2:g.233346911G>C	GRCh38
NC_000002.11:g.234255557G>C , CM000664.1:g.234255557G>C	GRCh37
NC_000002.10:g.233920296G>C	NCBI36
NG_009116.1:g.44249G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409110.6:c.1217G>C MANE Select	ENSP00000386444.1:p.Ter406Ser
ENST00000409110.5:c.1217G>C	ENSP00000386444.1:p.Ter406Ser
ENST00000412969.6:n.2437G>C
ENST00000471884.5:n.3248G>C
ENST00000474220.5:n.423G>C
ENST00000476500.5:n.6516G>C
ENST00000492629.1:n.178G>C
NM_000541.4:c.1217G>C	NP_000532.2:p.Ter406Ser
XM_011511589.1:c.1217G>C	XP_011509891.1:p.Ter406Ser
XM_011511590.1:c.1217G>C	XP_011509892.1:p.Ter406Ser
XM_011511591.1:c.*85G>C	XP_011509893.1:n.*85G>C
XM_011511592.1:c.1061G>C	XP_011509894.1:p.Ter354Ser
XM_011511593.1:c.917G>C	XP_011509895.1:p.Ter306Ser
XM_011511594.1:c.845G>C	XP_011509896.1:p.Ter282Ser
XM_011511596.1:c.815G>C	XP_011509898.1:p.Ter272Ser
XM_011511597.1:c.815G>C	XP_011509899.1:p.Ter272Ser
XR_922978.1:n.1534G>C
XR_922980.1:n.1633G>C
XM_011511593.3:c.917G>C	XP_011509895.1:p.Ter306Ser
XM_017004641.1:c.*85G>C	XP_016860130.1:n.*85G>C
XM_024453036.1:c.*85G>C	XP_024308804.1:n.*85G>C
XR_001738882.1:n.1415G>C
XR_922980.2:n.1633G>C
NM_000541.5:c.1217G>C MANE Select	NP_000532.2:p.Ter406Ser