Canonical Allele Identifier: CA402146576

Gene: DSG2 DSG2-AS1

Linked Data

• dbSNP Id: rs1449849317
• gnomAD v2: 18-29126097-G-C
• gnomAD v4: 18-31546134-G-C
• MyVariant Identifiers: chr18:g.29126097G>C (hg19) ; chr18:g.31546134G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31546134G>C , CM000680.2:g.31546134G>C	GRCh38
NC_000018.9:g.29126097G>C , CM000680.1:g.29126097G>C	GRCh37
NC_000018.8:g.27380095G>C	NCBI36
NG_007072.3:g.52893G>C , LRG_397:g.52893G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261590.13:c.2748G>C (DSG2) MANE Select	ENSP00000261590.8:p.Gln916His
ENST00000261590.12:c.2748G>C (DSG2)	ENSP00000261590.8:p.Gln916His
NM_001943.3:c.2748G>C , LRG_397t1:c.2748G>C (DSG2)	NP_001934.2:p.Gln916His
NR_045216.1:n.1346-228C>G (DSG2-AS1)
NM_001943.4:c.2748G>C (DSG2)	NP_001934.2:p.Gln916His
XM_024451095.1:c.2214G>C (DSG2)	XP_024306863.1:p.Gln738His
NM_001943.5:c.2748G>C (DSG2) MANE Select	NP_001934.2:p.Gln916His