Canonical Allele Identifier: CA2614404868

Gene: EFEMP2

Linked Data

• gnomAD v4: 11-65868247-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868247C>G , CM000673.2:g.65868247C>G	GRCh38
NC_000011.9:g.65635718C>G , CM000673.1:g.65635718C>G	GRCh37
NC_000011.8:g.65392294C>G	NCBI36
NG_012304.2:g.9688G>C
NG_053116.1:g.13186C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.974+48G>C MANE Select	ENSP00000309953.6:n.974+48G>C
ENST00000307998.10:c.974+48G>C	ENSP00000309953.6:n.974+48G>C
ENST00000525392.1:n.135+48G>C
ENST00000526628.5:n.1540+48G>C
ENST00000528176.5:c.974+48G>C	ENSP00000434151.1:n.974+48G>C
ENST00000528409.1:n.207+59G>C
ENST00000530806.5:c.-25+48G>C	ENSP00000436526.1:n.-25+48G>C
ENST00000531005.5:n.1968+48G>C
ENST00000531645.5:c.122+48G>C	ENSP00000436521.1:n.122+48G>C
ENST00000531972.5:c.974+48G>C	ENSP00000435295.1:n.974+48G>C
ENST00000532084.5:n.400+48G>C
NM_016938.4:c.974+48G>C	NP_058634.4:n.974+48G>C
NR_037718.1:n.1233+48G>C
NM_016938.5:c.974+48G>C MANE Select	NP_058634.4:n.974+48G>C
NR_037718.2:n.1099+48G>C