Canonical Allele Identifier: CA49368624

Gene: SPRED2

Linked Data

• dbSNP Id: rs182832903
• gnomAD v2: 2-65608586-C-A
• gnomAD v3: 2-65381452-C-A
• gnomAD v4: 2-65381452-C-A
• MyVariant Identifiers: chr2:g.65608586C>A (hg19) ; chr2:g.65381452C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.65381452C>A , CM000664.2:g.65381452C>A	GRCh38
NC_000002.11:g.65608586C>A , CM000664.1:g.65608586C>A	GRCh37
NC_000002.10:g.65462090C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356388.9:c.27-36556G>T MANE Select	ENSP00000348753.4:n.27-36556G>T
ENST00000356388.8:c.27-36556G>T	ENSP00000348753.4:n.27-36556G>T
ENST00000440972.1:c.27-36556G>T	ENSP00000406481.1:n.27-36556G>T
NM_181784.2:c.27-36556G>T	NP_861449.2:n.27-36556G>T
XM_005264200.3:c.27-36556G>T	XP_005264257.2:n.27-36556G>T
XM_005264202.3:c.27-36556G>T	XP_005264259.1:n.27-36556G>T
XM_006711966.1:c.27-36556G>T	XP_006712029.1:n.27-36556G>T
XM_005264200.5:c.27-36556G>T	XP_005264257.2:n.27-36556G>T
XM_005264202.5:c.27-36556G>T	XP_005264259.1:n.27-36556G>T
NM_181784.3:c.27-36556G>T MANE Select	NP_861449.2:n.27-36556G>T