Canonical Allele Identifier: CA1979444387

Gene: EFEMP2

Linked Data

• dbSNP Id: rs1859903832

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868463G>A , CM000673.2:g.65868463G>A	GRCh38
NC_000011.9:g.65635934G>A , CM000673.1:g.65635934G>A	GRCh37
NC_000011.8:g.65392510G>A	NCBI36
NG_012304.2:g.9472C>T
NG_053116.1:g.13402G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.848-42C>T MANE Select	ENSP00000309953.6:n.848-42C>T
ENST00000307998.10:c.848-42C>T	ENSP00000309953.6:n.848-42C>T
ENST00000526628.5:n.1414-42C>T
ENST00000528176.5:c.848-42C>T	ENSP00000434151.1:n.848-42C>T
ENST00000528409.1:n.50C>T
ENST00000530806.5:c.-151-42C>T	ENSP00000436526.1:n.-151-42C>T
ENST00000531005.5:n.1842-42C>T
ENST00000531972.5:c.848-42C>T	ENSP00000435295.1:n.848-42C>T
ENST00000532084.5:n.274-42C>T
NM_016938.4:c.848-42C>T	NP_058634.4:n.848-42C>T
NR_037718.1:n.1107-42C>T
NM_016938.5:c.848-42C>T MANE Select	NP_058634.4:n.848-42C>T
NR_037718.2:n.973-42C>T