Canonical Allele Identifier: CA6110749
Gene: EFEMP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 305383
ClinVar RCV Id: RCV000281080 RCV002520736 RCV003114475
dbSNP Id: rs773745810
ExAC: 11:65638840 G / C
gnomAD v2: 11-65638840-G-C
gnomAD v3: 11-65871369-G-C
gnomAD v4: 11-65871369-G-C
MyVariant Identifiers: chr11:g.65638840G>C (hg19) chr11:g.65871369G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65871369G>C , CM000673.2:g.65871369G>C GRCh38
NC_000011.9:g.65638840G>C , CM000673.1:g.65638840G>C GRCh37
NC_000011.8:g.65395416G>C NCBI36
NG_012304.2:g.6566C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000307998.11:c.161-6C>G MANE Select ENSP00000309953.6:n.161-6C>G
ENST00000307998.10:c.161-6C>G ENSP00000309953.6:n.161-6C>G
ENST00000526624.5:c.161-6C>G ENSP00000435419.1:n.161-6C>G
ENST00000527378.1:c.161-6C>G ENSP00000435963.1:n.161-6C>G
ENST00000528176.5:c.161-6C>G ENSP00000434151.1:n.161-6C>G
ENST00000530850.1:c.150-6C>G ENSP00000437238.1:n.150-6C>G
ENST00000531005.5:n.651C>G
ENST00000531972.5:c.161-6C>G ENSP00000435295.1:n.161-6C>G
ENST00000533347.5:c.201C>G ENSP00000435823.1:p.Leu67=
NM_016938.4:c.161-6C>G NP_058634.4:n.161-6C>G
NR_037718.1:n.420-6C>G
NM_016938.5:c.161-6C>G MANE Select NP_058634.4:n.161-6C>G
NR_037718.2:n.286-6C>G
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