Canonical Allele Identifier: CA49368757
Gene: SPRED2 HGNC NCBI

Linked Data

dbSNP Id: rs367812842
gnomAD v2: 2-65608823-C-T
gnomAD v3: 2-65381689-C-T
gnomAD v4: 2-65381689-C-T
MyVariant Identifiers: chr2:g.65608823C>T (hg19) chr2:g.65381689C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.65381689C>T , CM000664.2:g.65381689C>T GRCh38
NC_000002.11:g.65608823C>T , CM000664.1:g.65608823C>T GRCh37
NC_000002.10:g.65462327C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000356388.9:c.27-36793G>A MANE Select ENSP00000348753.4:n.27-36793G>A
ENST00000356388.8:c.27-36793G>A ENSP00000348753.4:n.27-36793G>A
ENST00000440972.1:c.27-36793G>A ENSP00000406481.1:n.27-36793G>A
NM_181784.2:c.27-36793G>A NP_861449.2:n.27-36793G>A
XM_005264200.3:c.27-36793G>A XP_005264257.2:n.27-36793G>A
XM_005264202.3:c.27-36793G>A XP_005264259.1:n.27-36793G>A
XM_006711966.1:c.27-36793G>A XP_006712029.1:n.27-36793G>A
XM_005264200.5:c.27-36793G>A XP_005264257.2:n.27-36793G>A
XM_005264202.5:c.27-36793G>A XP_005264259.1:n.27-36793G>A
NM_181784.3:c.27-36793G>A MANE Select NP_861449.2:n.27-36793G>A
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