Canonical Allele Identifier: CA2651637688

Gene: TMC2

Linked Data

• gnomAD v4: 20-2594724-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.2594724G>T , CM000682.2:g.2594724G>T	GRCh38
NC_000020.10:g.2575370G>T , CM000682.1:g.2575370G>T	GRCh37
NC_000020.9:g.2523370G>T	NCBI36
NG_042834.1:g.63118G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358864.2:c.934-101G>T MANE Select	ENSP00000351732.1:n.934-101G>T
ENST00000644205.1:n.1093-101G>T
ENST00000358864.1:c.934-101G>T	ENSP00000351732.1:n.934-101G>T
NM_080751.2:c.934-101G>T	NP_542789.2:n.934-101G>T
XM_005260660.2:c.1009-101G>T	XP_005260717.1:n.1009-101G>T
XM_005260660.4:c.1009-101G>T	XP_005260717.1:n.1009-101G>T
XR_001754152.1:n.1143-101G>T
NM_080751.3:c.934-101G>T MANE Select	NP_542789.2:n.934-101G>T