Canonical Allele Identifier: CA224016839

Gene: EFEMP2

Linked Data

• dbSNP Id: rs2234469
• MyVariant Identifiers: chr11:g.65635784T>C (hg19) ; chr11:g.65868313T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868313T>C , CM000673.2:g.65868313T>C	GRCh38
NC_000011.9:g.65635784T>C , CM000673.1:g.65635784T>C	GRCh37
NC_000011.8:g.65392360T>C	NCBI36
NG_012304.2:g.9622A>G
NG_053116.1:g.13252T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.956A>G MANE Select	ENSP00000309953.6:p.Tyr319Cys
ENST00000307998.10:c.956A>G	ENSP00000309953.6:p.Tyr319Cys
ENST00000525392.1:n.117A>G
ENST00000526628.5:n.1522A>G
ENST00000528176.5:c.956A>G	ENSP00000434151.1:p.Tyr319Cys
ENST00000528409.1:n.200A>G
ENST00000530806.5:c.-43A>G	ENSP00000436526.1:n.-43A>G
ENST00000531005.5:n.1950A>G
ENST00000531645.5:c.104A>G	ENSP00000436521.1:p.Tyr35Cys
ENST00000531972.5:c.956A>G	ENSP00000435295.1:p.Tyr319Cys
ENST00000532084.5:n.382A>G
NM_016938.4:c.956A>G	NP_058634.4:p.Tyr319Cys
NR_037718.1:n.1215A>G
NM_016938.5:c.956A>G MANE Select	NP_058634.4:p.Tyr319Cys
NR_037718.2:n.1081A>G