Canonical Allele Identifier: CA351050502

Gene: SAG

Linked Data

• COSMIC: COSM5558035 ; COSM5558036
• MyVariant Identifiers: chr2:g.234255529A>C (hg19) ; chr2:g.233346883A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233346883A>C , CM000664.2:g.233346883A>C	GRCh38
NC_000002.11:g.234255529A>C , CM000664.1:g.234255529A>C	GRCh37
NC_000002.10:g.233920268A>C	NCBI36
NG_009116.1:g.44221A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409110.6:c.1189A>C MANE Select	ENSP00000386444.1:p.Lys397Gln
ENST00000409110.5:c.1189A>C	ENSP00000386444.1:p.Lys397Gln
ENST00000412969.6:n.2409A>C
ENST00000471884.5:n.3220A>C
ENST00000474220.5:n.395A>C
ENST00000476500.5:n.6488A>C
ENST00000492629.1:n.150A>C
NM_000541.4:c.1189A>C	NP_000532.2:p.Lys397Gln
XM_011511589.1:c.1189A>C	XP_011509891.1:p.Lys397Gln
XM_011511590.1:c.1189A>C	XP_011509892.1:p.Lys397Gln
XM_011511591.1:c.*57A>C	XP_011509893.1:n.*57A>C
XM_011511592.1:c.1033A>C	XP_011509894.1:p.Lys345Gln
XM_011511593.1:c.889A>C	XP_011509895.1:p.Lys297Gln
XM_011511594.1:c.817A>C	XP_011509896.1:p.Lys273Gln
XM_011511596.1:c.787A>C	XP_011509898.1:p.Lys263Gln
XM_011511597.1:c.787A>C	XP_011509899.1:p.Lys263Gln
XR_922978.1:n.1506A>C
XR_922980.1:n.1605A>C
XM_011511593.3:c.889A>C	XP_011509895.1:p.Lys297Gln
XM_017004641.1:c.*57A>C	XP_016860130.1:n.*57A>C
XM_024453036.1:c.*57A>C	XP_024308804.1:n.*57A>C
XR_001738882.1:n.1387A>C
XR_922980.2:n.1605A>C
NM_000541.5:c.1189A>C MANE Select	NP_000532.2:p.Lys397Gln