Canonical Allele Identifier: CA645600530

Gene: DSG2

Linked Data

• gnomAD v4: 18-31519944-C-T
• COSMIC: COSM2809443

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31519944C>T , CM000680.2:g.31519944C>T	GRCh38
NC_000018.9:g.29099907C>T , CM000680.1:g.29099907C>T	GRCh37
NC_000018.8:g.27353905C>T	NCBI36
NG_007072.3:g.26703C>T , LRG_397:g.26703C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682087.2:n.47+7C>T
ENST00000682241.2:c.216+7C>T	ENSP00000507600.2:n.216+7C>T
ENST00000683614.2:n.47+7C>T
ENST00000682087.1:c.47+7C>T
ENST00000682241.1:c.47+7C>T
ENST00000683614.1:c.47+7C>T
ENST00000683654.1:c.216+7C>T	ENSP00000506971.1:n.216+7C>T
ENST00000684461.1:n.47+7C>T
ENST00000261590.13:c.216+7C>T MANE Select	ENSP00000261590.8:n.216+7C>T
ENST00000261590.12:c.216+7C>T	ENSP00000261590.8:n.216+7C>T
ENST00000585206.1:c.216+7C>T	ENSP00000462503.1:n.216+7C>T
NM_001943.3:c.216+7C>T , LRG_397t1:c.216+7C>T	NP_001934.2:n.216+7C>T
NM_001943.4:c.216+7C>T	NP_001934.2:n.216+7C>T
XM_024451095.1:c.-319+7C>T	XP_024306863.1:n.-319+7C>T
NM_001943.5:c.216+7C>T MANE Select	NP_001934.2:n.216+7C>T