Canonical Allele Identifier: CA022737

Gene: DSC2

Linked Data

• ClinVar Variation Id: 161223
• ClinVar RCV Id: RCV000148469 ; RCV000456802 ; RCV001180330 ; RCV002444604 ; RCV003998167
• dbSNP Id: rs143413607
• ExAC: 18:28648897 G / A
• gnomAD v2: 18-28648897-G-A
• gnomAD v3: 18-31068931-G-A
• gnomAD v4: 18-31068931-G-A
• MyVariant Identifiers: chr18:g.28648897G>A (hg19) ; chr18:g.31068931G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31068931G>A , CM000680.2:g.31068931G>A	GRCh38
NC_000018.9:g.28648897G>A , CM000680.1:g.28648897G>A	GRCh37
NC_000018.8:g.26902895G>A	NCBI36
NG_008208.2:g.38495C>T , LRG_400:g.38495C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.2042C>T	ENSP00000507826.1:p.Ser681Leu
ENST00000251081.8:c.2471C>T	ENSP00000251081.6:p.Ser824Leu
ENST00000280904.11:c.2471C>T MANE Select	ENSP00000280904.6:p.Ser824Leu
ENST00000648081.1:c.2042C>T	ENSP00000497441.1:p.Ser681Leu
ENST00000251081.6:c.2471C>T	ENSP00000251081.6:p.Ser824Leu
ENST00000280904.10:c.2471C>T	ENSP00000280904.6:p.Ser824Leu
NM_004949.4:c.2471C>T	NP_004940.1:p.Ser824Leu
NM_024422.4:c.2471C>T	NP_077740.1:p.Ser824Leu
XM_005258206.3:c.2042C>T	XP_005258263.1:p.Ser681Leu
XM_005258206.4:c.2042C>T	XP_005258263.1:p.Ser681Leu
NM_004949.5:c.2471C>T	NP_004940.1:p.Ser824Leu
NM_024422.6:c.2471C>T MANE Select	NP_077740.1:p.Ser824Leu