Canonical Allele Identifier: CA402141806

Gene: DSG2

Linked Data

• COSMIC: COSM6148877
• MyVariant Identifiers: chr18:g.29116302G>T (hg19) ; chr18:g.31536339G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31536339G>T , CM000680.2:g.31536339G>T	GRCh38
NC_000018.9:g.29116302G>T , CM000680.1:g.29116302G>T	GRCh37
NC_000018.8:g.27370300G>T	NCBI36
NG_007072.3:g.43098G>T , LRG_397:g.43098G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261590.13:c.1561G>T MANE Select	ENSP00000261590.8:p.Asp521Tyr
ENST00000261590.12:c.1561G>T	ENSP00000261590.8:p.Asp521Tyr
NM_001943.3:c.1561G>T , LRG_397t1:c.1561G>T	NP_001934.2:p.Asp521Tyr
NM_001943.4:c.1561G>T	NP_001934.2:p.Asp521Tyr
XM_024451095.1:c.1027G>T	XP_024306863.1:p.Asp343Tyr
NM_001943.5:c.1561G>T MANE Select	NP_001934.2:p.Asp521Tyr