Canonical Allele Identifier: CA908394073

Gene: ERC2

Linked Data

• dbSNP Id: rs1246312036
• gnomAD v3: 3-55529218-A-T
• gnomAD v4: 3-55529218-A-T
• MyVariant Identifiers: chr3:g.55563246A>T (hg19) ; chr3:g.55529218A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.55529218A>T , CM000665.2:g.55529218A>T	GRCh38
NC_000003.11:g.55563246A>T , CM000665.1:g.55563246A>T	GRCh37
NC_000003.10:g.55538286A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492584.3:c.*40-17942T>A	ENSP00000417280.3:n.*40-17942T>A
ENST00000288221.11:c.*40-17942T>A MANE Select	ENSP00000288221.6:n.*40-17942T>A
ENST00000288221.10:c.*40-17942T>A	ENSP00000288221.6:n.*40-17942T>A
ENST00000460849.5:c.*227-17942T>A	ENSP00000417445.1:n.*227-17942T>A
ENST00000468118.1:n.208-17942T>A
ENST00000469720.1:n.191-17942T>A
ENST00000473469.5:n.255-17942T>A
ENST00000484530.5:n.552-17942T>A
ENST00000486496.5:n.523-17942T>A
ENST00000487287.1:n.396-17942T>A
ENST00000612797.4:c.*227-17942T>A	ENSP00000483127.1:n.*227-17942T>A
NM_015576.1:c.*40-17942T>A	NP_056391.1:n.*40-17942T>A
NM_015576.2:c.*40-17942T>A	NP_056391.1:n.*40-17942T>A
NR_132749.1:n.3357-17942T>A
XM_011533580.1:c.2884-17942T>A	XP_011531882.1:n.2884-17942T>A
XM_011533581.1:c.2848-17942T>A	XP_011531883.1:n.2848-17942T>A
XM_011533582.1:c.2836-17942T>A	XP_011531884.1:n.2836-17942T>A
XR_245112.2:n.3396-17942T>A
XM_017006138.1:c.*160-17942T>A	XP_016861627.1:n.*160-17942T>A
XM_017006139.1:c.*131-17942T>A	XP_016861628.1:n.*131-17942T>A
XM_017006140.1:c.*131-17942T>A	XP_016861629.1:n.*131-17942T>A
XM_017006141.1:c.*131-17942T>A	XP_016861630.1:n.*131-17942T>A
XM_017006142.1:c.*131-17942T>A	XP_016861631.1:n.*131-17942T>A
XM_017006143.1:c.*227-17942T>A	XP_016861632.1:n.*227-17942T>A
XM_017006144.1:c.*256-17942T>A	XP_016861633.1:n.*256-17942T>A
XM_017006145.1:c.*131-17942T>A	XP_016861634.1:n.*131-17942T>A
XM_017006146.1:c.*131-17942T>A	XP_016861635.1:n.*131-17942T>A
XM_017006147.1:c.*256-17942T>A	XP_016861636.1:n.*256-17942T>A
XM_017006148.1:c.*131-17942T>A	XP_016861637.1:n.*131-17942T>A
XM_017006149.1:c.*227-17942T>A	XP_016861638.1:n.*227-17942T>A
XM_017006150.1:c.*40-17942T>A	XP_016861639.1:n.*40-17942T>A
XM_017006151.1:c.*131-17942T>A	XP_016861640.1:n.*131-17942T>A
XM_017006152.1:c.*227-17942T>A	XP_016861641.1:n.*227-17942T>A
XM_017006153.1:c.*256-17942T>A	XP_016861642.1:n.*256-17942T>A
XM_017006154.1:c.*40-17942T>A	XP_016861643.1:n.*40-17942T>A
XM_017006155.1:c.*227-17942T>A	XP_016861644.1:n.*227-17942T>A
XM_017006156.1:c.*131-17942T>A	XP_016861645.1:n.*131-17942T>A
XM_017006157.1:c.*227-17942T>A	XP_016861646.1:n.*227-17942T>A
XM_017006158.1:c.*256-17942T>A	XP_016861647.1:n.*256-17942T>A
XM_017006159.1:c.*256-17942T>A	XP_016861648.1:n.*256-17942T>A
XM_024453447.1:c.*131-17942T>A	XP_024309215.1:n.*131-17942T>A
XM_024453448.1:c.*803-17942T>A	XP_024309216.1:n.*803-17942T>A
NM_015576.3:c.*40-17942T>A MANE Select	NP_056391.1:n.*40-17942T>A
NR_132749.2:n.3461-17942T>A