Canonical Allele Identifier: CA503597168
Gene: DSG2 HGNC NCBI

Linked Data

dbSNP Id: rs1466560131
MyVariant Identifiers: chr18:g.29121244T>C (hg19) chr18:g.31541281T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31541281T>C , CM000680.2:g.31541281T>C GRCh38
NC_000018.9:g.29121244T>C , CM000680.1:g.29121244T>C GRCh37
NC_000018.8:g.27375242T>C NCBI36
NG_007072.3:g.48040T>C , LRG_397:g.48040T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.1968T>C MANE Select ENSP00000261590.8:p.Pro656=
ENST00000261590.12:c.1968T>C ENSP00000261590.8:p.Pro656=
NM_001943.3:c.1968T>C , LRG_397t1:c.1968T>C NP_001934.2:p.Pro656=
NM_001943.4:c.1968T>C NP_001934.2:p.Pro656=
XM_024451095.1:c.1434T>C XP_024306863.1:p.Pro478=
NM_001943.5:c.1968T>C MANE Select NP_001934.2:p.Pro656=
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