Canonical Allele Identifier: CA402139494
Gene: DSG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31541249C>G , CM000680.2:g.31541249C>G GRCh38
NC_000018.9:g.29121212C>G , CM000680.1:g.29121212C>G GRCh37
NC_000018.8:g.27375210C>G NCBI36
NG_007072.3:g.48008C>G , LRG_397:g.48008C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.1936C>G MANE Select ENSP00000261590.8:p.Pro646Ala
ENST00000261590.12:c.1936C>G ENSP00000261590.8:p.Pro646Ala
NM_001943.3:c.1936C>G , LRG_397t1:c.1936C>G NP_001934.2:p.Pro646Ala
NM_001943.4:c.1936C>G NP_001934.2:p.Pro646Ala
XM_024451095.1:c.1402C>G XP_024306863.1:p.Pro468Ala
NM_001943.5:c.1936C>G MANE Select NP_001934.2:p.Pro646Ala