Canonical Allele Identifier: CA381356251

Gene: EFEMP2

Linked Data

• ClinVar Variation Id: 3087522
• ClinVar RCV Id: RCV004384883
• MyVariant Identifiers: chr11:g.65635999C>T (hg19) ; chr11:g.65868528C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868528C>T , CM000673.2:g.65868528C>T	GRCh38
NC_000011.9:g.65635999C>T , CM000673.1:g.65635999C>T	GRCh37
NC_000011.8:g.65392575C>T	NCBI36
NG_012304.2:g.9407G>A
NG_053116.1:g.13467C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.829G>A MANE Select	ENSP00000309953.6:p.Ala277Thr
ENST00000307998.10:c.829G>A	ENSP00000309953.6:p.Ala277Thr
ENST00000526628.5:n.1395G>A
ENST00000527969.1:n.1514G>A
ENST00000528176.5:c.829G>A	ENSP00000434151.1:p.Ala277Thr
ENST00000530806.5:c.-170G>A	ENSP00000436526.1:n.-170G>A
ENST00000531005.5:n.1823G>A
ENST00000531972.5:c.829G>A	ENSP00000435295.1:p.Ala277Thr
ENST00000532084.5:n.255G>A
NM_016938.4:c.829G>A	NP_058634.4:p.Ala277Thr
NR_037718.1:n.1088G>A
NM_016938.5:c.829G>A MANE Select	NP_058634.4:p.Ala277Thr
NR_037718.2:n.954G>A