Canonical Allele Identifier: CA15426916
Gene: SMOC2 HGNC NCBI
COSMIC:
COSN14963226 (not active)
MyVariant.info:
GRCh38 chr6:g.168540944G>A
GRCh37 chr6:g.168941624G>A
gnomAD v2:
6:168941624 G / A
gnomAD v3:
6:168540944 G / A
gnomAD v4:
chr6-168540944-G-A
Joint Max Group AF 0.34277228 (NFE)
Genomes Max Group AF 0.34277228 (NFE)
dbSNP:
13208776
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.168540944G>A , CM000668.2:g.168540944G>A GRCh38
NC_000006.11:g.168941624G>A , CM000668.1:g.168941624G>A GRCh37
NC_000006.10:g.168684473G>A NCBI36
NG_032781.1:g.104794G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356284.7:c.464-2681G>A MANE Select ENSP00000348630.3:n.464-2681G>A
ENST00000354536.9:c.464-2681G>A ENSP00000346537.5:n.464-2681G>A
ENST00000356284.6:c.464-2681G>A ENSP00000348630.2:n.464-2681G>A
NM_001166412.1:c.464-2681G>A NP_001159884.1:n.464-2681G>A
NM_022138.2:c.464-2681G>A NP_071421.1:n.464-2681G>A
XM_011536065.1:c.464-2681G>A XP_011534367.1:n.464-2681G>A
XM_011536066.1:c.464-2681G>A XP_011534368.1:n.464-2681G>A
NM_001166412.2:c.464-2681G>A MANE Select NP_001159884.1:n.464-2681G>A
NM_022138.3:c.464-2681G>A NP_071421.1:n.464-2681G>A
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