Canonical Allele Identifier: CA757611915
Gene: THSD7B HGNC NCBI

Linked Data

dbSNP Id: rs1280418487
gnomAD v3: 2-137469887-T-A
gnomAD v4: 2-137469887-T-A
MyVariant Identifiers: chr2:g.138227457T>A (hg19) chr2:g.137469887T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.137469887T>A , CM000664.2:g.137469887T>A GRCh38
NC_000002.11:g.138227457T>A , CM000664.1:g.138227457T>A GRCh37
NC_000002.10:g.137943927T>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000409968.6:c.3138+18864T>A MANE Select ENSP00000387145.1:n.3138+18864T>A
ENST00000272643.7:c.3139+18863T>A ENSP00000272643.4:n.3139+18863T>A
ENST00000409968.5:c.3138+18864T>A ENSP00000387145.1:n.3138+18864T>A
ENST00000413152.3:c.3046+18863T>A ENSP00000413841.3:n.3046+18863T>A
NM_001080427.1:c.3045+18864T>A NP_001073896.1:n.3045+18864T>A
NM_001316349.1:c.3138+18864T>A NP_001303278.1:n.3138+18864T>A
XM_017005049.1:c.1341+18864T>A XP_016860538.1:n.1341+18864T>A
NM_001316349.2:c.3138+18864T>A MANE Select NP_001303278.1:n.3138+18864T>A
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