Canonical Allele Identifier: CA2843002407

Gene: EFEMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65871380G>T , CM000673.2:g.65871380G>T	GRCh38
NC_000011.9:g.65638851G>T , CM000673.1:g.65638851G>T	GRCh37
NC_000011.8:g.65395427G>T	NCBI36
NG_012304.2:g.6555C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.161-17C>A MANE Select	ENSP00000309953.6:n.161-17C>A
ENST00000307998.10:c.161-17C>A	ENSP00000309953.6:n.161-17C>A
ENST00000526624.5:c.161-17C>A	ENSP00000435419.1:n.161-17C>A
ENST00000527378.1:c.161-17C>A	ENSP00000435963.1:n.161-17C>A
ENST00000528176.5:c.161-17C>A	ENSP00000434151.1:n.161-17C>A
ENST00000530850.1:c.150-17C>A	ENSP00000437238.1:n.150-17C>A
ENST00000531005.5:n.640C>A
ENST00000531972.5:c.161-17C>A	ENSP00000435295.1:n.161-17C>A
ENST00000533347.5:c.190C>A	ENSP00000435823.1:p.Gln64Lys
NM_016938.4:c.161-17C>A	NP_058634.4:n.161-17C>A
NR_037718.1:n.420-17C>A
NM_016938.5:c.161-17C>A MANE Select	NP_058634.4:n.161-17C>A
NR_037718.2:n.286-17C>A