Canonical Allele Identifier: CA022171

Gene: DSG2

Linked Data

• ClinVar Variation Id: 137162
• ClinVar RCV Id: RCV000124795
• dbSNP Id: rs587780926
• gnomAD v2: 18-29101215-C-T
• gnomAD v3: 18-31521252-C-T
• gnomAD v4: 18-31521252-C-T
• MyVariant Identifiers: chr18:g.29101215C>T (hg19) ; chr18:g.29101215_29101218delinsTTTT (hg19) ; chr18:g.31521252C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31521252C>T , CM000680.2:g.31521252C>T	GRCh38
NC_000018.9:g.29101215C>T , CM000680.1:g.29101215C>T	GRCh37
NC_000018.8:g.27355213C>T	NCBI36
NG_007072.3:g.28011C>T , LRG_397:g.28011C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682087.2:n.354+9C>T
ENST00000682241.2:c.523+9C>T	ENSP00000507600.2:n.523+9C>T
ENST00000683614.2:n.354+9C>T
ENST00000682087.1:c.354+9C>T
ENST00000682241.1:c.354+9C>T
ENST00000683614.1:c.354+9C>T
ENST00000683654.1:c.523+9C>T	ENSP00000506971.1:n.523+9C>T
ENST00000684461.1:n.363C>T
ENST00000261590.13:c.523+9C>T MANE Select	ENSP00000261590.8:n.523+9C>T
ENST00000261590.12:c.523+9C>T	ENSP00000261590.8:n.523+9C>T
ENST00000585206.1:c.523+9C>T	ENSP00000462503.1:n.523+9C>T
NM_001943.3:c.523+9C>T , LRG_397t1:c.523+9C>T	NP_001934.2:n.523+9C>T
NM_001943.4:c.523+9C>T	NP_001934.2:n.523+9C>T
XM_024451095.1:c.-12+9C>T	XP_024306863.1:n.-12+9C>T
NM_001943.5:c.523+9C>T MANE Select	NP_001934.2:n.523+9C>T