Canonical Allele Identifier: CA532337789

Gene: EPCAM

Linked Data

• dbSNP Id: rs1558436976
• gnomAD v2: 2-47604374-T-TTTG
• gnomAD v3: 2-47377235-T-TTTG
• gnomAD v4: 2-47377235-T-TTTG
• MyVariant Identifiers: chr2:g.47604374_47604375insTTG (hg19) ; chr2:g.47377235_47377236insTTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47377237_47377238insGTT , CM000664.2:g.47377237_47377238insGTT	GRCh38
NC_000002.11:g.47604376_47604377insGTT , CM000664.1:g.47604376_47604377insGTT	GRCh37
NC_000002.10:g.47457880_47457881insGTT	NCBI36
NG_012352.2:g.37075_37076insGTT , LRG_215:g.37075_37076insGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263735.9:c.555+160_555+161insGTT MANE Select	ENSP00000263735.4:n.555+160_555+161insGTT
ENST00000263735.8:c.555+160_555+161insGTT	ENSP00000263735.4:n.555+160_555+161insGTT
ENST00000405271.5:c.639+160_639+161insGTT	ENSP00000385476.1:n.639+160_639+161insGTT
ENST00000456133.5:c.639+160_639+161insGTT	ENSP00000410675.1:n.639+160_639+161insGTT
ENST00000490733.1:n.404+160_404+161insGTT
NM_002354.2:c.555+160_555+161insGTT , LRG_215t1:c.555+160_555+161insGTT	NP_002345.2:n.555+160_555+161insGTT
NM_002354.3:c.555+160_555+161insGTT MANE Select	NP_002345.2:n.555+160_555+161insGTT