Canonical Allele Identifier: CA908393979

Gene: ERC2

Linked Data

• dbSNP Id: rs1328624452
• gnomAD v3: 3-55529104-CCAGGCCATAGCCCTGGG-C
• gnomAD v4: 3-55529104-CCAGGCCATAGCCCTGGG-C
• MyVariant Identifiers: chr3:g.55563133_55563149del (hg19) ; chr3:g.55529105_55529121del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.55529105_55529121del , CM000665.2:g.55529105_55529121del	GRCh38
NC_000003.11:g.55563133_55563149del , CM000665.1:g.55563133_55563149del	GRCh37
NC_000003.10:g.55538173_55538189del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492584.3:c.*40-17845_*40-17829del	ENSP00000417280.3:n.*40-17845_*40-17829del
ENST00000288221.11:c.*40-17845_*40-17829del MANE Select	ENSP00000288221.6:n.*40-17845_*40-17829del
ENST00000288221.10:c.*40-17845_*40-17829del	ENSP00000288221.6:n.*40-17845_*40-17829del
ENST00000460849.5:c.*227-17845_*227-17829del	ENSP00000417445.1:n.*227-17845_*227-17829del
ENST00000468118.1:n.208-17845_208-17829del
ENST00000469720.1:n.191-17845_191-17829del
ENST00000473469.5:n.255-17845_255-17829del
ENST00000484530.5:n.552-17845_552-17829del
ENST00000486496.5:n.523-17845_523-17829del
ENST00000487287.1:n.396-17845_396-17829del
ENST00000612797.4:c.*227-17845_*227-17829del	ENSP00000483127.1:n.*227-17845_*227-17829del
NM_015576.1:c.*40-17845_*40-17829del	NP_056391.1:n.*40-17845_*40-17829del
NM_015576.2:c.*40-17845_*40-17829del	NP_056391.1:n.*40-17845_*40-17829del
NR_132749.1:n.3357-17845_3357-17829del
XM_011533580.1:c.2884-17845_2884-17829del	XP_011531882.1:n.2884-17845_2884-17829del
XM_011533581.1:c.2848-17845_2848-17829del	XP_011531883.1:n.2848-17845_2848-17829del
XM_011533582.1:c.2836-17845_2836-17829del	XP_011531884.1:n.2836-17845_2836-17829del
XR_245112.2:n.3396-17845_3396-17829del
XM_017006138.1:c.*160-17845_*160-17829del	XP_016861627.1:n.*160-17845_*160-17829del
XM_017006139.1:c.*131-17845_*131-17829del	XP_016861628.1:n.*131-17845_*131-17829del
XM_017006140.1:c.*131-17845_*131-17829del	XP_016861629.1:n.*131-17845_*131-17829del
XM_017006141.1:c.*131-17845_*131-17829del	XP_016861630.1:n.*131-17845_*131-17829del
XM_017006142.1:c.*131-17845_*131-17829del	XP_016861631.1:n.*131-17845_*131-17829del
XM_017006143.1:c.*227-17845_*227-17829del	XP_016861632.1:n.*227-17845_*227-17829del
XM_017006144.1:c.*256-17845_*256-17829del	XP_016861633.1:n.*256-17845_*256-17829del
XM_017006145.1:c.*131-17845_*131-17829del	XP_016861634.1:n.*131-17845_*131-17829del
XM_017006146.1:c.*131-17845_*131-17829del	XP_016861635.1:n.*131-17845_*131-17829del
XM_017006147.1:c.*256-17845_*256-17829del	XP_016861636.1:n.*256-17845_*256-17829del
XM_017006148.1:c.*131-17845_*131-17829del	XP_016861637.1:n.*131-17845_*131-17829del
XM_017006149.1:c.*227-17845_*227-17829del	XP_016861638.1:n.*227-17845_*227-17829del
XM_017006150.1:c.*40-17845_*40-17829del	XP_016861639.1:n.*40-17845_*40-17829del
XM_017006151.1:c.*131-17845_*131-17829del	XP_016861640.1:n.*131-17845_*131-17829del
XM_017006152.1:c.*227-17845_*227-17829del	XP_016861641.1:n.*227-17845_*227-17829del
XM_017006153.1:c.*256-17845_*256-17829del	XP_016861642.1:n.*256-17845_*256-17829del
XM_017006154.1:c.*40-17845_*40-17829del	XP_016861643.1:n.*40-17845_*40-17829del
XM_017006155.1:c.*227-17845_*227-17829del	XP_016861644.1:n.*227-17845_*227-17829del
XM_017006156.1:c.*131-17845_*131-17829del	XP_016861645.1:n.*131-17845_*131-17829del
XM_017006157.1:c.*227-17845_*227-17829del	XP_016861646.1:n.*227-17845_*227-17829del
XM_017006158.1:c.*256-17845_*256-17829del	XP_016861647.1:n.*256-17845_*256-17829del
XM_017006159.1:c.*256-17845_*256-17829del	XP_016861648.1:n.*256-17845_*256-17829del
XM_024453447.1:c.*131-17845_*131-17829del	XP_024309215.1:n.*131-17845_*131-17829del
XM_024453448.1:c.*803-17845_*803-17829del	XP_024309216.1:n.*803-17845_*803-17829del
NM_015576.3:c.*40-17845_*40-17829del MANE Select	NP_056391.1:n.*40-17845_*40-17829del
NR_132749.2:n.3461-17845_3461-17829del