Canonical Allele Identifier: CA044341
Gene: DSG2 HGNC NCBI

Linked Data

dbSNP Id: rs764097157
ExAC: 18:29121210 C / A
gnomAD v2: 18-29121210-C-A
gnomAD v3: 18-31541247-C-A
gnomAD v4: 18-31541247-C-A
MyVariant Identifiers: chr18:g.29121210C>A (hg19) chr18:g.31541247C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31541247C>A , CM000680.2:g.31541247C>A GRCh38
NC_000018.9:g.29121210C>A , CM000680.1:g.29121210C>A GRCh37
NC_000018.8:g.27375208C>A NCBI36
NG_007072.3:g.48006C>A , LRG_397:g.48006C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.1934C>A MANE Select ENSP00000261590.8:p.Thr645Asn
ENST00000261590.12:c.1934C>A ENSP00000261590.8:p.Thr645Asn
NM_001943.3:c.1934C>A , LRG_397t1:c.1934C>A NP_001934.2:p.Thr645Asn
NM_001943.4:c.1934C>A NP_001934.2:p.Thr645Asn
XM_024451095.1:c.1400C>A XP_024306863.1:p.Thr467Asn
NM_001943.5:c.1934C>A MANE Select NP_001934.2:p.Thr645Asn
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