Canonical Allele Identifier: CA6110444

Gene: EFEMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868067C>T , CM000673.2:g.65868067C>T	GRCh38
NC_000011.9:g.65635538C>T , CM000673.1:g.65635538C>T	GRCh37
NC_000011.8:g.65392114C>T	NCBI36
NG_012304.2:g.9868G>A
NG_053116.1:g.13006C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_016938.5:c.975-11G>A MANE Select	NP_058634.4:n.975-11G>A
ENST00000307998.11:c.975-11G>A MANE Select	ENSP00000309953.6:n.975-11G>A
NM_016938.4:c.975-11G>A	NP_058634.4:n.975-11G>A
NR_037718.1:n.1234-11G>A
NR_037718.2:n.1100-11G>A
ENST00000307998.10:c.975-11G>A	ENSP00000309953.6:n.975-11G>A
ENST00000525392.1:n.136-11G>A
ENST00000526628.5:n.1541-11G>A
ENST00000528176.5:c.975-11G>A	ENSP00000434151.1:n.975-11G>A
ENST00000528409.1:n.208-11G>A
ENST00000530806.5:c.-24-54G>A	ENSP00000436526.1:n.-24-54G>A
ENST00000531005.5:n.1969-11G>A
ENST00000531645.5:c.123-11G>A	ENSP00000436521.1:n.123-11G>A
ENST00000531972.5:c.975-11G>A	ENSP00000435295.1:n.975-11G>A
ENST00000532084.5:n.401-11G>A