Canonical Allele Identifier: CA381310340

Gene: EFEMP2

Linked Data

• ClinVar Variation Id: 1000032
• ClinVar RCV Id: RCV001296107
• dbSNP Id: rs1859961874
• MyVariant Identifiers: chr11:g.65638780A>G (hg19) ; chr11:g.65871309A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65871309A>G , CM000673.2:g.65871309A>G	GRCh38
NC_000011.9:g.65638780A>G , CM000673.1:g.65638780A>G	GRCh37
NC_000011.8:g.65395356A>G	NCBI36
NG_012304.2:g.6626T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.215T>C MANE Select	ENSP00000309953.6:p.Ile72Thr
ENST00000307998.10:c.215T>C	ENSP00000309953.6:p.Ile72Thr
ENST00000526624.5:c.215T>C	ENSP00000435419.1:p.Ile72Thr
ENST00000527378.1:c.215T>C	ENSP00000435963.1:p.Ile72Thr
ENST00000528176.5:c.215T>C	ENSP00000434151.1:p.Ile72Thr
ENST00000530850.1:c.*27T>C	ENSP00000437238.1:n.*27T>C
ENST00000531005.5:n.711T>C
ENST00000531972.5:c.215T>C	ENSP00000435295.1:p.Ile72Thr
ENST00000533347.5:c.*27T>C	ENSP00000435823.1:n.*27T>C
NM_016938.4:c.215T>C	NP_058634.4:p.Ile72Thr
NR_037718.1:n.474T>C
NM_016938.5:c.215T>C MANE Select	NP_058634.4:p.Ile72Thr
NR_037718.2:n.340T>C