Canonical Allele Identifier: CA757547263
Gene: THSD7B HGNC NCBI

Linked Data

dbSNP Id: rs1358311910
gnomAD v3: 2-137118247-C-A
gnomAD v4: 2-137118247-C-A
MyVariant Identifiers: chr2:g.137875817C>A (hg19) chr2:g.137118247C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.137118247C>A , CM000664.2:g.137118247C>A GRCh38
NC_000002.11:g.137875817C>A , CM000664.1:g.137875817C>A GRCh37
NC_000002.10:g.137592287C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000409968.6:c.1369+2954C>A MANE Select ENSP00000387145.1:n.1369+2954C>A
ENST00000272643.7:c.1369+2954C>A ENSP00000272643.4:n.1369+2954C>A
ENST00000409968.5:c.1369+2954C>A ENSP00000387145.1:n.1369+2954C>A
ENST00000413152.3:c.1276+2954C>A ENSP00000413841.3:n.1276+2954C>A
NM_001080427.1:c.1276+2954C>A NP_001073896.1:n.1276+2954C>A
NM_001316349.1:c.1369+2954C>A NP_001303278.1:n.1369+2954C>A
NM_001316349.2:c.1369+2954C>A MANE Select NP_001303278.1:n.1369+2954C>A
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