Canonical Allele Identifier: CA310875800

Gene: TMC2

Linked Data

• dbSNP Id: rs910338766
• gnomAD v3: 20-2594749-T-C
• gnomAD v4: 20-2594749-T-C
• MyVariant Identifiers: chr20:g.2575395T>C (hg19) ; chr20:g.2594749T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.2594749T>C , CM000682.2:g.2594749T>C	GRCh38
NC_000020.10:g.2575395T>C , CM000682.1:g.2575395T>C	GRCh37
NC_000020.9:g.2523395T>C	NCBI36
NG_042834.1:g.63143T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000358864.2:c.934-76T>C MANE Select	ENSP00000351732.1:n.934-76T>C
ENST00000644205.1:n.1093-76T>C
ENST00000358864.1:c.934-76T>C	ENSP00000351732.1:n.934-76T>C
NM_080751.2:c.934-76T>C	NP_542789.2:n.934-76T>C
XM_005260660.2:c.1009-76T>C	XP_005260717.1:n.1009-76T>C
XM_005260660.4:c.1009-76T>C	XP_005260717.1:n.1009-76T>C
XR_001754152.1:n.1143-76T>C
NM_080751.3:c.934-76T>C MANE Select	NP_542789.2:n.934-76T>C