Canonical Allele Identifier: CA14747380

Gene: TMC2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.2537919G>T , CM000682.2:g.2537919G>T	GRCh38
NC_000020.10:g.2518565G>T , CM000682.1:g.2518565G>T	GRCh37
NC_000020.9:g.2466565G>T	NCBI36
NG_042834.1:g.6313G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358864.2:c.82+603G>T MANE Select	ENSP00000351732.1:n.82+603G>T
ENST00000358864.1:c.82+603G>T	ENSP00000351732.1:n.82+603G>T
NM_080751.2:c.82+603G>T	NP_542789.2:n.82+603G>T
XR_937204.1:n.332-3309C>A
XR_937204.2:n.386-3309C>A
NM_080751.3:c.82+603G>T MANE Select	NP_542789.2:n.82+603G>T