Canonical Allele Identifier: CA346724079

Gene: EPCAM

Linked Data

• dbSNP Id: rs1170920409
• gnomAD v4: 2-47377079-T-C
• MyVariant Identifiers: chr2:g.47604218T>C (hg19) ; chr2:g.47377079T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47377079T>C , CM000664.2:g.47377079T>C	GRCh38
NC_000002.11:g.47604218T>C , CM000664.1:g.47604218T>C	GRCh37
NC_000002.10:g.47457722T>C	NCBI36
NG_012352.2:g.36917T>C , LRG_215:g.36917T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263735.9:c.555+2T>C MANE Select	ENSP00000263735.4:n.555+2T>C
ENST00000263735.8:c.555+2T>C	ENSP00000263735.4:n.555+2T>C
ENST00000405271.5:c.639+2T>C	ENSP00000385476.1:n.639+2T>C
ENST00000456133.5:c.639+2T>C	ENSP00000410675.1:n.639+2T>C
ENST00000490733.1:n.404+2T>C
NM_002354.2:c.555+2T>C , LRG_215t1:c.555+2T>C	NP_002345.2:n.555+2T>C
NM_002354.3:c.555+2T>C MANE Select	NP_002345.2:n.555+2T>C