Canonical Allele Identifier: CA533379839

Gene: SPRED2

Linked Data

• dbSNP Id: rs1312610631
• gnomAD v2: 2-65608756-TCAGTA-T
• gnomAD v3: 2-65381622-TCAGTA-T
• gnomAD v4: 2-65381622-TCAGTA-T
• MyVariant Identifiers: chr2:g.65608757_65608761del (hg19) ; chr2:g.65381623_65381627del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.65381625_65381629del , CM000664.2:g.65381625_65381629del	GRCh38
NC_000002.11:g.65608759_65608763del , CM000664.1:g.65608759_65608763del	GRCh37
NC_000002.10:g.65462263_65462267del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356388.9:c.27-36731_27-36727del MANE Select	ENSP00000348753.4:n.27-36731_27-36727del
ENST00000356388.8:c.27-36731_27-36727del	ENSP00000348753.4:n.27-36731_27-36727del
ENST00000440972.1:c.27-36731_27-36727del	ENSP00000406481.1:n.27-36731_27-36727del
NM_181784.2:c.27-36731_27-36727del	NP_861449.2:n.27-36731_27-36727del
XM_005264200.3:c.27-36731_27-36727del	XP_005264257.2:n.27-36731_27-36727del
XM_005264202.3:c.27-36731_27-36727del	XP_005264259.1:n.27-36731_27-36727del
XM_006711966.1:c.27-36731_27-36727del	XP_006712029.1:n.27-36731_27-36727del
XM_005264200.5:c.27-36731_27-36727del	XP_005264257.2:n.27-36731_27-36727del
XM_005264202.5:c.27-36731_27-36727del	XP_005264259.1:n.27-36731_27-36727del
NM_181784.3:c.27-36731_27-36727del MANE Select	NP_861449.2:n.27-36731_27-36727del