Canonical Allele Identifier: CA988919471

Gene: DSG2

Linked Data

• dbSNP Id: rs2073124506
• gnomAD v3: 18-31521023-TTTG-T
• gnomAD v4: 18-31521023-TTTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31521026_31521028del , CM000680.2:g.31521026_31521028del	GRCh38
NC_000018.9:g.29100989_29100991del , CM000680.1:g.29100989_29100991del	GRCh37
NC_000018.8:g.27354987_27354989del	NCBI36
NG_007072.3:g.27785_27787del , LRG_397:g.27785_27787del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682087.2:n.209+62_209+64del
ENST00000682241.2:c.378+62_378+64del	ENSP00000507600.2:n.378+62_378+64del
ENST00000683614.2:n.209+62_209+64del
ENST00000682087.1:c.209+62_209+64del
ENST00000682241.1:c.209+62_209+64del
ENST00000683614.1:c.209+62_209+64del
ENST00000683654.1:c.378+62_378+64del	ENSP00000506971.1:n.378+62_378+64del
ENST00000684461.1:n.209+62_209+64del
ENST00000261590.13:c.378+62_378+64del MANE Select	ENSP00000261590.8:n.378+62_378+64del
ENST00000261590.12:c.378+62_378+64del	ENSP00000261590.8:n.378+62_378+64del
ENST00000585206.1:c.378+62_378+64del	ENSP00000462503.1:n.378+62_378+64del
NM_001943.3:c.378+62_378+64del , LRG_397t1:c.378+62_378+64del	NP_001934.2:n.378+62_378+64del
NM_001943.4:c.378+62_378+64del	NP_001934.2:n.378+62_378+64del
XM_024451095.1:c.-157+62_-157+64del	XP_024306863.1:n.-157+62_-157+64del
NM_001943.5:c.378+62_378+64del MANE Select	NP_001934.2:n.378+62_378+64del