Canonical Allele Identifier: CA224017225

Gene: EFEMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65869977C>G , CM000673.2:g.65869977C>G	GRCh38
NC_000011.9:g.65637448C>G , CM000673.1:g.65637448C>G	GRCh37
NC_000011.8:g.65394024C>G	NCBI36
NG_012304.2:g.7958G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_016938.5:c.608-1G>C MANE Select	NP_058634.4:n.608-1G>C
ENST00000307998.11:c.608-1G>C MANE Select	ENSP00000309953.6:n.608-1G>C
NM_016938.4:c.608-1G>C	NP_058634.4:n.608-1G>C
NR_037718.1:n.867-1G>C
NR_037718.2:n.733-1G>C
ENST00000307998.10:c.608-1G>C	ENSP00000309953.6:n.608-1G>C
ENST00000527969.1:n.585-1G>C
ENST00000528176.5:c.608-1G>C	ENSP00000434151.1:n.608-1G>C
ENST00000531005.5:n.1602-1G>C
ENST00000531972.5:c.608-1G>C	ENSP00000435295.1:n.608-1G>C
ENST00000533347.5:c.*420-1G>C	ENSP00000435823.1:n.*420-1G>C