Canonical Allele Identifier: CA402131084

Gene: DSG2

Linked Data

• gnomAD v4: 18-31519939-T-C
• MyVariant Identifiers: chr18:g.29099902T>C (hg19) ; chr18:g.31519939T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31519939T>C , CM000680.2:g.31519939T>C	GRCh38
NC_000018.9:g.29099902T>C , CM000680.1:g.29099902T>C	GRCh37
NC_000018.8:g.27353900T>C	NCBI36
NG_007072.3:g.26698T>C , LRG_397:g.26698T>C

Transcript Alleles

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