Canonical Allele Identifier: CA381357932

Gene: EFEMP2

Linked Data

• MyVariant Identifiers: chr11:g.65636098T>G (hg19) ; chr11:g.65868627T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868627T>G , CM000673.2:g.65868627T>G	GRCh38
NC_000011.9:g.65636098T>G , CM000673.1:g.65636098T>G	GRCh37
NC_000011.8:g.65392674T>G	NCBI36
NG_012304.2:g.9308A>C
NG_053116.1:g.13566T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.730A>C MANE Select	ENSP00000309953.6:p.Ile244Leu
ENST00000307998.10:c.730A>C	ENSP00000309953.6:p.Ile244Leu
ENST00000526628.5:n.1296A>C
ENST00000527969.1:n.1415A>C
ENST00000528176.5:c.730A>C	ENSP00000434151.1:p.Ile244Leu
ENST00000531005.5:n.1724A>C
ENST00000531972.5:c.730A>C	ENSP00000435295.1:p.Ile244Leu
ENST00000532084.5:n.156A>C
NM_016938.4:c.730A>C	NP_058634.4:p.Ile244Leu
NR_037718.1:n.989A>C
NM_016938.5:c.730A>C MANE Select	NP_058634.4:p.Ile244Leu
NR_037718.2:n.855A>C