Canonical Allele Identifier: CA1979445325

Gene: EFEMP2

Linked Data

• dbSNP Id: rs1859964276
• gnomAD v4: 11-65871438-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65871438T>C , CM000673.2:g.65871438T>C	GRCh38
NC_000011.9:g.65638909T>C , CM000673.1:g.65638909T>C	GRCh37
NC_000011.8:g.65395485T>C	NCBI36
NG_012304.2:g.6497A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.161-75A>G MANE Select	ENSP00000309953.6:n.161-75A>G
ENST00000307998.10:c.161-75A>G	ENSP00000309953.6:n.161-75A>G
ENST00000526624.5:c.161-75A>G	ENSP00000435419.1:n.161-75A>G
ENST00000527378.1:c.161-75A>G	ENSP00000435963.1:n.161-75A>G
ENST00000528176.5:c.161-75A>G	ENSP00000434151.1:n.161-75A>G
ENST00000529870.1:n.789A>G
ENST00000530850.1:c.150-75A>G	ENSP00000437238.1:n.150-75A>G
ENST00000531005.5:n.582A>G
ENST00000531972.5:c.161-75A>G	ENSP00000435295.1:n.161-75A>G
ENST00000533347.5:c.161-29A>G	ENSP00000435823.1:n.161-29A>G
NM_016938.4:c.161-75A>G	NP_058634.4:n.161-75A>G
NR_037718.1:n.420-75A>G
NM_016938.5:c.161-75A>G MANE Select	NP_058634.4:n.161-75A>G
NR_037718.2:n.286-75A>G