Canonical Allele Identifier: CA530165624
Gene: GREM2 HGNC NCBI

Linked Data

dbSNP Id: rs1162979691
gnomAD v2: 1-240721592-G-A
gnomAD v3: 1-240558292-G-A
gnomAD v4: 1-240558292-G-A
MyVariant Identifiers: chr1:g.240721592G>A (hg19) chr1:g.240558292G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.240558292G>A , CM000663.2:g.240558292G>A GRCh38
NC_000001.10:g.240721592G>A , CM000663.1:g.240721592G>A GRCh37
NC_000001.9:g.238788215G>A NCBI36
NG_053136.1:g.59081C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000318160.5:c.-2+53592C>T MANE Select ENSP00000318650.4:n.-2+53592C>T
ENST00000318160.4:c.-2+53592C>T ENSP00000318650.4:n.-2+53592C>T
NM_022469.3:c.-2+53592C>T NP_071914.3:n.-2+53592C>T
XM_011544249.1:c.-122+53592C>T XP_011542551.1:n.-122+53592C>T
XR_949319.1:n.219+2080G>A
XM_011544249.2:c.-122+53592C>T XP_011542551.1:n.-122+53592C>T
NM_022469.4:c.-2+53592C>T MANE Select NP_071914.3:n.-2+53592C>T
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