Canonical Allele Identifier: CA2293854992
Community Standard Title: NM_001943.5(DSG2):c.166G= (p.Val56=)
Gene: DSG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31519887G= , CM000680.2:g.31519887G= GRCh38
NC_000018.9:g.29099850G= , CM000680.1:g.29099850G= GRCh37
NC_000018.8:g.27353848G= NCBI36
NG_007072.3:g.26646G= , LRG_397:g.26646G=

Transcript Alleles

HGVS Amino-acid Change
NM_001943.5:c.166G= MANE Select NP_001934.2:p.Val56=
ENST00000261590.13:c.166G= MANE Select ENSP00000261590.8:p.Val56=
NM_001943.3:c.166G= , LRG_397t1:c.166G= NP_001934.2:p.Val56=
NM_001943.4:c.166G= NP_001934.2:p.Val56=
ENST00000261590.12:c.166G= ENSP00000261590.8:p.Val56=
ENST00000585206.1:c.166G= ENSP00000462503.1:p.Val56=
ENST00000682241.2:c.166G= ENSP00000507600.2:p.Val56=
ENST00000683654.1:c.166G= ENSP00000506971.1:p.Val56=
XM_024451095.1:c.-369G= XP_024306863.1:n.-369G=