Canonical Allele Identifier: CA351050255

Gene: SAG

Linked Data

• MyVariant Identifiers: chr2:g.234255460G>A (hg19) ; chr2:g.233346814G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233346814G>A , CM000664.2:g.233346814G>A	GRCh38
NC_000002.11:g.234255460G>A , CM000664.1:g.234255460G>A	GRCh37
NC_000002.10:g.233920199G>A	NCBI36
NG_009116.1:g.44152G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000409110.6:c.1120G>A MANE Select	ENSP00000386444.1:p.Asp374Asn
ENST00000409110.5:c.1120G>A	ENSP00000386444.1:p.Asp374Asn
ENST00000412969.6:n.2340G>A
ENST00000471884.5:n.3151G>A
ENST00000474220.5:n.326G>A
ENST00000476500.5:n.6419G>A
ENST00000492629.1:n.81G>A
NM_000541.4:c.1120G>A	NP_000532.2:p.Asp374Asn
XM_011511589.1:c.1120G>A	XP_011509891.1:p.Asp374Asn
XM_011511590.1:c.1120G>A	XP_011509892.1:p.Asp374Asn
XM_011511591.1:c.1110G>A	XP_011509893.1:p.Arg370=
XM_011511592.1:c.964G>A	XP_011509894.1:p.Asp322Asn
XM_011511593.1:c.820G>A	XP_011509895.1:p.Asp274Asn
XM_011511594.1:c.748G>A	XP_011509896.1:p.Asp250Asn
XM_011511596.1:c.718G>A	XP_011509898.1:p.Asp240Asn
XM_011511597.1:c.718G>A	XP_011509899.1:p.Asp240Asn
XR_922978.1:n.1437G>A
XR_922979.1:n.1441G>A
XR_922980.1:n.1536G>A
XM_011511593.3:c.820G>A	XP_011509895.1:p.Asp274Asn
XM_017004641.1:c.1110G>A	XP_016860130.1:p.Arg370=
XM_024453036.1:c.708G>A	XP_024308804.1:p.Arg236=
XR_001738882.1:n.1318G>A
XR_922980.2:n.1536G>A
NM_000541.5:c.1120G>A MANE Select	NP_000532.2:p.Asp374Asn