Canonical Allele Identifier: CA40346718
Gene: GREM2 HGNC NCBI

Linked Data

dbSNP Id: rs534840992
gnomAD v2: 1-240705915-A-AAAAT
gnomAD v3: 1-240542615-A-AAAAT
gnomAD v4: 1-240542615-A-AAAAT
MyVariant Identifiers: chr1:g.240705923_240705924insAAAT (hg19) chr1:g.240705915_240705916insAAAT (hg19) chr1:g.240542623_240542624insAAAT (hg38) chr1:g.240542615_240542616insAAAT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.240542639_240542642dup , CM000663.2:g.240542639_240542642dup GRCh38
NC_000001.10:g.240705939_240705942dup , CM000663.1:g.240705939_240705942dup GRCh37
NC_000001.9:g.238772562_238772565dup NCBI36
NG_053136.1:g.74754_74757dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000318160.5:c.-1-49143_-1-49140dup MANE Select ENSP00000318650.4:n.-1-49143_-1-49140dup
ENST00000318160.4:c.-1-49143_-1-49140dup ENSP00000318650.4:n.-1-49143_-1-49140dup
NM_022469.3:c.-1-49143_-1-49140dup NP_071914.3:n.-1-49143_-1-49140dup
XM_011544249.1:c.-121-45022_-121-45019dup XP_011542551.1:n.-121-45022_-121-45019dup
XM_011544249.2:c.-121-45022_-121-45019dup XP_011542551.1:n.-121-45022_-121-45019dup
NM_022469.4:c.-1-49143_-1-49140dup MANE Select NP_071914.3:n.-1-49143_-1-49140dup
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