Canonical Allele Identifier: CA351048564

Gene: SAG

Linked Data

• MyVariant Identifiers: chr2:g.234243735T>C (hg19) ; chr2:g.233335089T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233335089T>C , CM000664.2:g.233335089T>C	GRCh38
NC_000002.11:g.234243735T>C , CM000664.1:g.234243735T>C	GRCh37
NC_000002.10:g.233908474T>C	NCBI36
NG_009116.1:g.32427T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409110.6:c.934T>C MANE Select	ENSP00000386444.1:p.Ser312Pro
ENST00000409110.5:c.934T>C	ENSP00000386444.1:p.Ser312Pro
ENST00000412969.6:n.2154T>C
ENST00000469222.5:n.951T>C
ENST00000471884.5:n.2965T>C
ENST00000473771.1:n.374T>C
ENST00000476500.5:n.6233T>C
ENST00000483231.5:n.318T>C
NM_000541.4:c.934T>C	NP_000532.2:p.Ser312Pro
XM_011511589.1:c.934T>C	XP_011509891.1:p.Ser312Pro
XM_011511590.1:c.934T>C	XP_011509892.1:p.Ser312Pro
XM_011511591.1:c.934T>C	XP_011509893.1:p.Ser312Pro
XM_011511592.1:c.778T>C	XP_011509894.1:p.Ser260Pro
XM_011511593.1:c.634T>C	XP_011509895.1:p.Ser212Pro
XM_011511594.1:c.562T>C	XP_011509896.1:p.Ser188Pro
XM_011511596.1:c.532T>C	XP_011509898.1:p.Ser178Pro
XM_011511597.1:c.532T>C	XP_011509899.1:p.Ser178Pro
XR_922978.1:n.1130T>C
XR_922979.1:n.1130T>C
XR_922980.1:n.1229T>C
XM_011511593.3:c.634T>C	XP_011509895.1:p.Ser212Pro
XM_017004641.1:c.934T>C	XP_016860130.1:p.Ser312Pro
XM_017004642.1:c.934T>C	XP_016860131.1:p.Ser312Pro
XM_024453036.1:c.532T>C	XP_024308804.1:p.Ser178Pro
XR_001738882.1:n.1011T>C
XR_922980.2:n.1229T>C
NM_000541.5:c.934T>C MANE Select	NP_000532.2:p.Ser312Pro