Canonical Allele Identifier: CA2577320008
Gene: TMC2 HGNC NCBI

Linked Data

gnomAD v4: 20-2594741-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2594741G>A , CM000682.2:g.2594741G>A GRCh38
NC_000020.10:g.2575387G>A , CM000682.1:g.2575387G>A GRCh37
NC_000020.9:g.2523387G>A NCBI36
NG_042834.1:g.63135G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000358864.2:c.934-84G>A MANE Select ENSP00000351732.1:n.934-84G>A
ENST00000644205.1:n.1093-84G>A
ENST00000358864.1:c.934-84G>A ENSP00000351732.1:n.934-84G>A
NM_080751.2:c.934-84G>A NP_542789.2:n.934-84G>A
XM_005260660.2:c.1009-84G>A XP_005260717.1:n.1009-84G>A
XM_005260660.4:c.1009-84G>A XP_005260717.1:n.1009-84G>A
XR_001754152.1:n.1143-84G>A
NM_080751.3:c.934-84G>A MANE Select NP_542789.2:n.934-84G>A
Search 100 bp 5'
Search 100 bp 3'