Canonical Allele Identifier: CA351050450

Gene: SAG

Linked Data

• MyVariant Identifiers: chr2:g.234255517G>C (hg19) ; chr2:g.233346871G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233346871G>C , CM000664.2:g.233346871G>C	GRCh38
NC_000002.11:g.234255517G>C , CM000664.1:g.234255517G>C	GRCh37
NC_000002.10:g.233920256G>C	NCBI36
NG_009116.1:g.44209G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409110.6:c.1177G>C MANE Select	ENSP00000386444.1:p.Ala393Pro
ENST00000409110.5:c.1177G>C	ENSP00000386444.1:p.Ala393Pro
ENST00000412969.6:n.2397G>C
ENST00000471884.5:n.3208G>C
ENST00000474220.5:n.383G>C
ENST00000476500.5:n.6476G>C
ENST00000492629.1:n.138G>C
NM_000541.4:c.1177G>C	NP_000532.2:p.Ala393Pro
XM_011511589.1:c.1177G>C	XP_011509891.1:p.Ala393Pro
XM_011511590.1:c.1177G>C	XP_011509892.1:p.Ala393Pro
XM_011511591.1:c.*45G>C	XP_011509893.1:n.*45G>C
XM_011511592.1:c.1021G>C	XP_011509894.1:p.Ala341Pro
XM_011511593.1:c.877G>C	XP_011509895.1:p.Ala293Pro
XM_011511594.1:c.805G>C	XP_011509896.1:p.Ala269Pro
XM_011511596.1:c.775G>C	XP_011509898.1:p.Ala259Pro
XM_011511597.1:c.775G>C	XP_011509899.1:p.Ala259Pro
XR_922978.1:n.1494G>C
XR_922980.1:n.1593G>C
XM_011511593.3:c.877G>C	XP_011509895.1:p.Ala293Pro
XM_017004641.1:c.*45G>C	XP_016860130.1:n.*45G>C
XM_024453036.1:c.*45G>C	XP_024308804.1:n.*45G>C
XR_001738882.1:n.1375G>C
XR_922980.2:n.1593G>C
NM_000541.5:c.1177G>C MANE Select	NP_000532.2:p.Ala393Pro