Canonical Allele Identifier: CA351050564

Gene: SAG

Linked Data

• MyVariant Identifiers: chr2:g.234255541A>C (hg19) ; chr2:g.233346895A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233346895A>C , CM000664.2:g.233346895A>C	GRCh38
NC_000002.11:g.234255541A>C , CM000664.1:g.234255541A>C	GRCh37
NC_000002.10:g.233920280A>C	NCBI36
NG_009116.1:g.44233A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409110.6:c.1201A>C MANE Select	ENSP00000386444.1:p.Asn401His
ENST00000409110.5:c.1201A>C	ENSP00000386444.1:p.Asn401His
ENST00000412969.6:n.2421A>C
ENST00000471884.5:n.3232A>C
ENST00000474220.5:n.407A>C
ENST00000476500.5:n.6500A>C
ENST00000492629.1:n.162A>C
NM_000541.4:c.1201A>C	NP_000532.2:p.Asn401His
XM_011511589.1:c.1201A>C	XP_011509891.1:p.Asn401His
XM_011511590.1:c.1201A>C	XP_011509892.1:p.Asn401His
XM_011511591.1:c.*69A>C	XP_011509893.1:n.*69A>C
XM_011511592.1:c.1045A>C	XP_011509894.1:p.Asn349His
XM_011511593.1:c.901A>C	XP_011509895.1:p.Asn301His
XM_011511594.1:c.829A>C	XP_011509896.1:p.Asn277His
XM_011511596.1:c.799A>C	XP_011509898.1:p.Asn267His
XM_011511597.1:c.799A>C	XP_011509899.1:p.Asn267His
XR_922978.1:n.1518A>C
XR_922980.1:n.1617A>C
XM_011511593.3:c.901A>C	XP_011509895.1:p.Asn301His
XM_017004641.1:c.*69A>C	XP_016860130.1:n.*69A>C
XM_024453036.1:c.*69A>C	XP_024308804.1:n.*69A>C
XR_001738882.1:n.1399A>C
XR_922980.2:n.1617A>C
NM_000541.5:c.1201A>C MANE Select	NP_000532.2:p.Asn401His