Canonical Allele Identifier: CA402148203

Gene: DSG2 DSG2-AS1

Linked Data

• gnomAD v4: 18-31546448-G-C
• MyVariant Identifiers: chr18:g.29126411G>C (hg19) ; chr18:g.31546448G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31546448G>C , CM000680.2:g.31546448G>C	GRCh38
NC_000018.9:g.29126411G>C , CM000680.1:g.29126411G>C	GRCh37
NC_000018.8:g.27380409G>C	NCBI36
NG_007072.3:g.53207G>C , LRG_397:g.53207G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261590.13:c.3062G>C (DSG2) MANE Select	ENSP00000261590.8:p.Ser1021Thr
ENST00000261590.12:c.3062G>C (DSG2)	ENSP00000261590.8:p.Ser1021Thr
NM_001943.3:c.3062G>C , LRG_397t1:c.3062G>C (DSG2)	NP_001934.2:p.Ser1021Thr
NR_045216.1:n.1346-542C>G (DSG2-AS1)
NM_001943.4:c.3062G>C (DSG2)	NP_001934.2:p.Ser1021Thr
XM_024451095.1:c.2528G>C (DSG2)	XP_024306863.1:p.Ser843Thr
NM_001943.5:c.3062G>C (DSG2) MANE Select	NP_001934.2:p.Ser1021Thr