Canonical Allele Identifier: CA532337786

Gene: EPCAM

Linked Data

• dbSNP Id: rs1309715460
• gnomAD v2: 2-47604369-T-TA
• gnomAD v3: 2-47377230-T-TA
• gnomAD v4: 2-47377230-T-TA
• MyVariant Identifiers: chr2:g.47604369_47604370insA (hg19) ; chr2:g.47377230_47377231insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47377230_47377231insA , CM000664.2:g.47377230_47377231insA	GRCh38
NC_000002.11:g.47604369_47604370insA , CM000664.1:g.47604369_47604370insA	GRCh37
NC_000002.10:g.47457873_47457874insA	NCBI36
NG_012352.2:g.37068_37069insA , LRG_215:g.37068_37069insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263735.9:c.555+153_555+154insA MANE Select	ENSP00000263735.4:n.555+153_555+154insA
ENST00000263735.8:c.555+153_555+154insA	ENSP00000263735.4:n.555+153_555+154insA
ENST00000405271.5:c.639+153_639+154insA	ENSP00000385476.1:n.639+153_639+154insA
ENST00000456133.5:c.639+153_639+154insA	ENSP00000410675.1:n.639+153_639+154insA
ENST00000490733.1:n.404+153_404+154insA
NM_002354.2:c.555+153_555+154insA , LRG_215t1:c.555+153_555+154insA	NP_002345.2:n.555+153_555+154insA
NM_002354.3:c.555+153_555+154insA MANE Select	NP_002345.2:n.555+153_555+154insA