Canonical Allele Identifier: CA2614405994

Gene: EFEMP2

Linked Data

• gnomAD v4: 11-65868708-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868708C>A , CM000673.2:g.65868708C>A	GRCh38
NC_000011.9:g.65636179C>A , CM000673.1:g.65636179C>A	GRCh37
NC_000011.8:g.65392755C>A	NCBI36
NG_012304.2:g.9227G>T
NG_053116.1:g.13647C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.728-79G>T MANE Select	ENSP00000309953.6:n.728-79G>T
ENST00000307998.10:c.728-79G>T	ENSP00000309953.6:n.728-79G>T
ENST00000526628.5:n.1215G>T
ENST00000527969.1:n.1334G>T
ENST00000528176.5:c.728-79G>T	ENSP00000434151.1:n.728-79G>T
ENST00000531005.5:n.1722-79G>T
ENST00000531972.5:c.728-79G>T	ENSP00000435295.1:n.728-79G>T
ENST00000532084.5:n.154-79G>T
NM_016938.4:c.728-79G>T	NP_058634.4:n.728-79G>T
NR_037718.1:n.987-79G>T
NM_016938.5:c.728-79G>T MANE Select	NP_058634.4:n.728-79G>T
NR_037718.2:n.853-79G>T