Canonical Allele Identifier: CA297641612

Gene: DSC2

Linked Data

• dbSNP Id: rs932289309
• gnomAD v2: 18-28669176-G-GA
• gnomAD v3: 18-31089213-G-GA
• gnomAD v4: 18-31089213-G-GA
• MyVariant Identifiers: chr18:g.28669177_28669178insA (hg19) ; chr18:g.28669176_28669177insA (hg19) ; chr18:g.31089214_31089215insA (hg38) ; chr18:g.31089213_31089214insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31089222dup , CM000680.2:g.31089222dup	GRCh38
NC_000018.9:g.28669185dup , CM000680.1:g.28669185dup	GRCh37
NC_000018.8:g.26923183dup	NCBI36
NG_008208.2:g.18212dup , LRG_400:g.18212dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.201+225dup	ENSP00000507826.1:n.201+225dup
ENST00000251081.8:c.630+225dup	ENSP00000251081.6:n.630+225dup
ENST00000280904.11:c.630+225dup MANE Select	ENSP00000280904.6:n.630+225dup
ENST00000648081.1:c.201+225dup	ENSP00000497441.1:n.201+225dup
ENST00000251081.6:c.630+225dup	ENSP00000251081.6:n.630+225dup
ENST00000280904.10:c.630+225dup	ENSP00000280904.6:n.630+225dup
NM_004949.4:c.630+225dup	NP_004940.1:n.630+225dup
NM_024422.4:c.630+225dup	NP_077740.1:n.630+225dup
XM_005258206.3:c.201+225dup	XP_005258263.1:n.201+225dup
XM_005258206.4:c.201+225dup	XP_005258263.1:n.201+225dup
NM_004949.5:c.630+225dup	NP_004940.1:n.630+225dup
NM_024422.6:c.630+225dup MANE Select	NP_077740.1:n.630+225dup