Canonical Allele Identifier: CA402127523
Gene: DSG2 HGNC NCBI

Linked Data

gnomAD v4: 18-31498253-T-C
MyVariant Identifiers: chr18:g.29078216T>C (hg19) chr18:g.31498253T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31498253T>C , CM000680.2:g.31498253T>C GRCh38
NC_000018.9:g.29078216T>C , CM000680.1:g.29078216T>C GRCh37
NC_000018.8:g.27332214T>C NCBI36
NG_007072.3:g.5012T>C , LRG_397:g.5012T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682241.2:c.2T>C ENSP00000507600.2:p.Met1Thr
ENST00000683654.1:c.2T>C ENSP00000506971.1:p.Met1Thr
ENST00000261590.13:c.2T>C MANE Select ENSP00000261590.8:p.Met1Thr
ENST00000261590.12:c.2T>C ENSP00000261590.8:p.Met1Thr
ENST00000585206.1:c.2T>C ENSP00000462503.1:p.Met1Thr
NM_001943.3:c.2T>C , LRG_397t1:c.2T>C NP_001934.2:p.Met1Thr
NM_001943.4:c.2T>C NP_001934.2:p.Met1Thr
NM_001943.5:c.2T>C MANE Select NP_001934.2:p.Met1Thr
Search 100 bp 5'
Search 100 bp 3'