Canonical Allele Identifier: CA381350439

Gene: EFEMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65867860C>T , CM000673.2:g.65867860C>T	GRCh38
NC_000011.9:g.65635331C>T , CM000673.1:g.65635331C>T	GRCh37
NC_000011.8:g.65391907C>T	NCBI36
NG_012304.2:g.10075G>A
NG_053116.1:g.12799C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_016938.5:c.1170+1G>A MANE Select	NP_058634.4:n.1170+1G>A
ENST00000307998.11:c.1170+1G>A MANE Select	ENSP00000309953.6:n.1170+1G>A
NM_016938.4:c.1170+1G>A	NP_058634.4:n.1170+1G>A
NR_037718.1:n.1429+1G>A
NR_037718.2:n.1295+1G>A
ENST00000307998.10:c.1170+1G>A	ENSP00000309953.6:n.1170+1G>A
ENST00000524408.1:c.46+1G>A
ENST00000525392.1:n.332G>A
ENST00000526628.5:n.1736+1G>A
ENST00000526911.1:c.147+1G>A	ENSP00000436536.1:n.147+1G>A
ENST00000528176.5:c.1170+1G>A	ENSP00000434151.1:n.1170+1G>A
ENST00000528409.1:n.403+1G>A
ENST00000530806.5:c.129+1G>A	ENSP00000436526.1:n.129+1G>A
ENST00000531645.5:c.318+1G>A	ENSP00000436521.1:n.318+1G>A
ENST00000531972.5:c.1170+1G>A	ENSP00000435295.1:n.1170+1G>A