Canonical Allele Identifier: CA600230070

Gene: EFEMP2

Linked Data

• dbSNP Id: rs1241448258
• gnomAD v2: 11-65638848-C-T
• gnomAD v4: 11-65871377-C-T
• MyVariant Identifiers: chr11:g.65638848C>T (hg19) ; chr11:g.65871377C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65871377C>T , CM000673.2:g.65871377C>T	GRCh38
NC_000011.9:g.65638848C>T , CM000673.1:g.65638848C>T	GRCh37
NC_000011.8:g.65395424C>T	NCBI36
NG_012304.2:g.6558G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.161-14G>A MANE Select	ENSP00000309953.6:n.161-14G>A
ENST00000307998.10:c.161-14G>A	ENSP00000309953.6:n.161-14G>A
ENST00000526624.5:c.161-14G>A	ENSP00000435419.1:n.161-14G>A
ENST00000527378.1:c.161-14G>A	ENSP00000435963.1:n.161-14G>A
ENST00000528176.5:c.161-14G>A	ENSP00000434151.1:n.161-14G>A
ENST00000530850.1:c.150-14G>A	ENSP00000437238.1:n.150-14G>A
ENST00000531005.5:n.643G>A
ENST00000531972.5:c.161-14G>A	ENSP00000435295.1:n.161-14G>A
ENST00000533347.5:c.193G>A	ENSP00000435823.1:p.Ala65Thr
NM_016938.4:c.161-14G>A	NP_058634.4:n.161-14G>A
NR_037718.1:n.420-14G>A
NM_016938.5:c.161-14G>A MANE Select	NP_058634.4:n.161-14G>A
NR_037718.2:n.286-14G>A