Canonical Allele Identifier: CA46641969

Gene: EPCAM

Linked Data

• dbSNP Id: rs555655816
• gnomAD v3: 2-47377168-A-T
• gnomAD v4: 2-47377168-A-T
• MyVariant Identifiers: chr2:g.47604307A>T (hg19) ; chr2:g.47377168A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47377168A>T , CM000664.2:g.47377168A>T	GRCh38
NC_000002.11:g.47604307A>T , CM000664.1:g.47604307A>T	GRCh37
NC_000002.10:g.47457811A>T	NCBI36
NG_012352.2:g.37006A>T , LRG_215:g.37006A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263735.9:c.555+91A>T MANE Select	ENSP00000263735.4:n.555+91A>T
ENST00000263735.8:c.555+91A>T	ENSP00000263735.4:n.555+91A>T
ENST00000405271.5:c.639+91A>T	ENSP00000385476.1:n.639+91A>T
ENST00000456133.5:c.639+91A>T	ENSP00000410675.1:n.639+91A>T
ENST00000490733.1:n.404+91A>T
NM_002354.2:c.555+91A>T , LRG_215t1:c.555+91A>T	NP_002345.2:n.555+91A>T
NM_002354.3:c.555+91A>T MANE Select	NP_002345.2:n.555+91A>T