Canonical Allele Identifier: CA047164
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs532965734
ExAC: 18:29126124 T / C
gnomAD v2: 18-29126124-T-C
gnomAD v3: 18-31546161-T-C
gnomAD v4: 18-31546161-T-C
MyVariant Identifiers: chr18:g.29126124T>C (hg19) chr18:g.31546161T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546161T>C , CM000680.2:g.31546161T>C GRCh38
NC_000018.9:g.29126124T>C , CM000680.1:g.29126124T>C GRCh37
NC_000018.8:g.27380122T>C NCBI36
NG_007072.3:g.52920T>C , LRG_397:g.52920T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.2775T>C (DSG2) MANE Select ENSP00000261590.8:p.Pro925=
ENST00000261590.12:c.2775T>C (DSG2) ENSP00000261590.8:p.Pro925=
NM_001943.3:c.2775T>C , LRG_397t1:c.2775T>C (DSG2) NP_001934.2:p.Pro925=
NR_045216.1:n.1346-255A>G (DSG2-AS1)
NM_001943.4:c.2775T>C (DSG2) NP_001934.2:p.Pro925=
XM_024451095.1:c.2241T>C (DSG2) XP_024306863.1:p.Pro747=
NM_001943.5:c.2775T>C (DSG2) MANE Select NP_001934.2:p.Pro925=
Search 100 bp 5'
Search 100 bp 3'