Canonical Allele Identifier: CA402131072

Gene: DSG2

Linked Data

• gnomAD v4: 18-31519937-G-C
• MyVariant Identifiers: chr18:g.29099900G>C (hg19) ; chr18:g.31519937G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31519937G>C , CM000680.2:g.31519937G>C	GRCh38
NC_000018.9:g.29099900G>C , CM000680.1:g.29099900G>C	GRCh37
NC_000018.8:g.27353898G>C	NCBI36
NG_007072.3:g.26696G>C , LRG_397:g.26696G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682087.2:n.47G>C
ENST00000682241.2:c.216G>C	ENSP00000507600.2:p.Lys72Asn
ENST00000683614.2:n.47G>C
ENST00000682087.1:c.47G>C
ENST00000682241.1:c.47G>C
ENST00000683614.1:c.47G>C
ENST00000683654.1:c.216G>C	ENSP00000506971.1:p.Lys72Asn
ENST00000684461.1:n.47G>C
ENST00000261590.13:c.216G>C MANE Select	ENSP00000261590.8:p.Lys72Asn
ENST00000261590.12:c.216G>C	ENSP00000261590.8:p.Lys72Asn
ENST00000585206.1:c.216G>C	ENSP00000462503.1:p.Lys72Asn
NM_001943.3:c.216G>C , LRG_397t1:c.216G>C	NP_001934.2:p.Lys72Asn
NM_001943.4:c.216G>C	NP_001934.2:p.Lys72Asn
XM_024451095.1:c.-319G>C	XP_024306863.1:n.-319G>C
NM_001943.5:c.216G>C MANE Select	NP_001934.2:p.Lys72Asn