Canonical Allele Identifier: CA1979445021

Gene: EFEMP2

Linked Data

• dbSNP Id: rs1859909288

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868661C>G , CM000673.2:g.65868661C>G	GRCh38
NC_000011.9:g.65636132C>G , CM000673.1:g.65636132C>G	GRCh37
NC_000011.8:g.65392708C>G	NCBI36
NG_012304.2:g.9274G>C
NG_053116.1:g.13600C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.728-32G>C MANE Select	ENSP00000309953.6:n.728-32G>C
ENST00000307998.10:c.728-32G>C	ENSP00000309953.6:n.728-32G>C
ENST00000526628.5:n.1262G>C
ENST00000527969.1:n.1381G>C
ENST00000528176.5:c.728-32G>C	ENSP00000434151.1:n.728-32G>C
ENST00000531005.5:n.1722-32G>C
ENST00000531972.5:c.728-32G>C	ENSP00000435295.1:n.728-32G>C
ENST00000532084.5:n.154-32G>C
NM_016938.4:c.728-32G>C	NP_058634.4:n.728-32G>C
NR_037718.1:n.987-32G>C
NM_016938.5:c.728-32G>C MANE Select	NP_058634.4:n.728-32G>C
NR_037718.2:n.853-32G>C