Canonical Allele Identifier: CA021920

Gene: DSG2 DSG2-AS1

Linked Data

• ClinVar Variation Id: 44308
• ClinVar RCV Id: RCV000037295 ; RCV000231454 ; RCV000617277 ; RCV000776293 ; RCV001530060
• dbSNP Id: rs79229040
• ExAC: 18:29126235 T / G
• gnomAD v2: 18-29126235-T-G
• gnomAD v3: 18-31546272-T-G
• gnomAD v4: 18-31546272-T-G
• MyVariant Identifiers: chr18:g.29126235T>G (hg19) ; chr18:g.31546272T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31546272T>G , CM000680.2:g.31546272T>G	GRCh38
NC_000018.9:g.29126235T>G , CM000680.1:g.29126235T>G	GRCh37
NC_000018.8:g.27380233T>G	NCBI36
NG_007072.3:g.53031T>G , LRG_397:g.53031T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261590.13:c.2886T>G (DSG2) MANE Select	ENSP00000261590.8:p.Ile962Met
ENST00000261590.12:c.2886T>G (DSG2)	ENSP00000261590.8:p.Ile962Met
NM_001943.3:c.2886T>G , LRG_397t1:c.2886T>G (DSG2)	NP_001934.2:p.Ile962Met
NR_045216.1:n.1346-366A>C (DSG2-AS1)
NM_001943.4:c.2886T>G (DSG2)	NP_001934.2:p.Ile962Met
XM_024451095.1:c.2352T>G (DSG2)	XP_024306863.1:p.Ile784Met
NM_001943.5:c.2886T>G (DSG2) MANE Select	NP_001934.2:p.Ile962Met