Canonical Allele Identifier: CA347007366

Gene: SPRED2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.65334679A>G , CM000664.2:g.65334679A>G	GRCh38
NC_000002.11:g.65561813A>G , CM000664.1:g.65561813A>G	GRCh37
NC_000002.10:g.65415317A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_181784.3:c.299T>C MANE Select	NP_861449.2:p.Leu100Pro
ENST00000356388.9:c.299T>C MANE Select	ENSP00000348753.4:p.Leu100Pro
NM_001128210.1:c.290T>C	NP_001121682.1:p.Leu97Pro
NM_001128210.2:c.290T>C	NP_001121682.1:p.Leu97Pro
NM_181784.2:c.299T>C	NP_861449.2:p.Leu100Pro
ENST00000356388.8:c.299T>C	ENSP00000348753.4:p.Leu100Pro
ENST00000421087.5:c.95T>C	ENSP00000407627.1:p.Leu32Pro
ENST00000426832.1:c.176T>C	ENSP00000414551.1:p.Leu59Pro
ENST00000440972.1:c.299T>C	ENSP00000406481.1:p.Leu100Pro
ENST00000443619.6:c.290T>C	ENSP00000393697.2:p.Leu97Pro
ENST00000452315.5:c.344T>C	ENSP00000390595.1:p.Leu115Pro
ENST00000474228.1:n.436T>C
XM_005264200.3:c.299T>C	XP_005264257.2:p.Leu100Pro
XM_005264200.5:c.299T>C	XP_005264257.2:p.Leu100Pro
XM_005264201.1:c.-218-2628T>C	XP_005264258.1:n.-218-2628T>C
XM_005264202.3:c.299T>C	XP_005264259.1:p.Leu100Pro
XM_005264202.5:c.299T>C	XP_005264259.1:p.Leu100Pro
XM_006711966.1:c.299T>C	XP_006712029.1:p.Leu100Pro