Canonical Allele Identifier: CA49368868

Gene: SPRED2

Linked Data

• dbSNP Id: rs991423085
• gnomAD v2: 2-65608949-A-G
• gnomAD v3: 2-65381815-A-G
• gnomAD v4: 2-65381815-A-G
• MyVariant Identifiers: chr2:g.65608949A>G (hg19) ; chr2:g.65381815A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.65381815A>G , CM000664.2:g.65381815A>G	GRCh38
NC_000002.11:g.65608949A>G , CM000664.1:g.65608949A>G	GRCh37
NC_000002.10:g.65462453A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356388.9:c.27-36919T>C MANE Select	ENSP00000348753.4:n.27-36919T>C
ENST00000356388.8:c.27-36919T>C	ENSP00000348753.4:n.27-36919T>C
ENST00000440972.1:c.27-36919T>C	ENSP00000406481.1:n.27-36919T>C
NM_181784.2:c.27-36919T>C	NP_861449.2:n.27-36919T>C
XM_005264200.3:c.27-36919T>C	XP_005264257.2:n.27-36919T>C
XM_005264202.3:c.27-36919T>C	XP_005264259.1:n.27-36919T>C
XM_006711966.1:c.27-36919T>C	XP_006712029.1:n.27-36919T>C
XM_005264200.5:c.27-36919T>C	XP_005264257.2:n.27-36919T>C
XM_005264202.5:c.27-36919T>C	XP_005264259.1:n.27-36919T>C
NM_181784.3:c.27-36919T>C MANE Select	NP_861449.2:n.27-36919T>C