Canonical Allele Identifier: CA658658731

Gene: DSG2

Linked Data

• ClinVar Variation Id: 466348
• ClinVar RCV Id: RCV001805176 ; RCV002358510
• dbSNP Id: rs1555671331
• gnomAD v4: 18-31522179-ATCCTCC-A
• MyVariant Identifiers: chr18:g.29102143_29102148del (hg19) ; chr18:g.31522180_31522185del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31522180_31522185del , CM000680.2:g.31522180_31522185del	GRCh38
NC_000018.9:g.29102143_29102148del , CM000680.1:g.29102143_29102148del	GRCh37
NC_000018.8:g.27356141_27356146del	NCBI36
NG_007072.3:g.28939_28944del , LRG_397:g.28939_28944del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682087.2:n.452_457del
ENST00000682241.2:c.621_626del	ENSP00000507600.2:p.Tyr207Ter
ENST00000683614.2:n.452_457del
ENST00000682087.1:c.452_457del
ENST00000682241.1:c.452_457del
ENST00000683614.1:c.452_457del
ENST00000683654.1:c.621_626del	ENSP00000506971.1:p.Tyr207Ter
ENST00000684461.1:n.1291_1296del
ENST00000261590.13:c.621_626del MANE Select	ENSP00000261590.8:p.Tyr207Ter
ENST00000261590.12:c.621_626del	ENSP00000261590.8:p.Tyr207Ter
ENST00000585206.1:c.621_626del	ENSP00000462503.1:p.Tyr207Ter
NM_001943.3:c.621_626del , LRG_397t1:c.621_626del	NP_001934.2:p.Tyr207Ter
NM_001943.4:c.621_626del	NP_001934.2:p.Tyr207Ter
XM_024451095.1:c.87_92del	XP_024306863.1:p.Tyr29Ter
NM_001943.5:c.621_626del MANE Select	NP_001934.2:p.Tyr207Ter