Canonical Allele Identifier: CA10950590
Gene: GREM2 HGNC NCBI
COSMIC:
COSN6450181 (not active)
MyVariant.info:
GRCh38 chr1:g.240558252C>T
GRCh37 chr1:g.240721552C>T
gnomAD v2:
1:240721552 C / T
gnomAD v3:
1:240558252 C / T
gnomAD v4:
chr1-240558252-C-T
Joint Max Group AF 0.36970726 (EAS)
Genomes Max Group AF 0.36970726 (EAS)
dbSNP:
1934341
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.240558252C>T , CM000663.2:g.240558252C>T GRCh38
NC_000001.10:g.240721552C>T , CM000663.1:g.240721552C>T GRCh37
NC_000001.9:g.238788175C>T NCBI36
NG_053136.1:g.59121G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318160.5:c.-2+53632G>A MANE Select ENSP00000318650.4:n.-2+53632G>A
ENST00000318160.4:c.-2+53632G>A ENSP00000318650.4:n.-2+53632G>A
NM_022469.3:c.-2+53632G>A NP_071914.3:n.-2+53632G>A
XM_011544249.1:c.-122+53632G>A XP_011542551.1:n.-122+53632G>A
XR_949319.1:n.219+2040C>T
XM_011544249.2:c.-122+53632G>A XP_011542551.1:n.-122+53632G>A
NM_022469.4:c.-2+53632G>A MANE Select NP_071914.3:n.-2+53632G>A
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