Canonical Allele Identifier: CA6110776
Gene: EFEMP2 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.65871991G>A
GRCh37 chr11:g.65639462G>A
Revel Score:
ENST00000528176 0.213
ENST00000307998 (MANE Select) 0.213
ENST00000526624 0.213
ENST00000527378 0.213
gnomAD v2:
11:65639462 G / A
gnomAD v3:
11:65871991 G / A
gnomAD v4:
chr11-65871991-G-A
Joint Max Group AF 0.00108212 (NFE)
Genomes Max Group AF 0.00150826 (NFE)
Exomes Max Group AF 0.001041 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65871991G>A , CM000673.2:g.65871991G>A GRCh38
NC_000011.9:g.65639462G>A , CM000673.1:g.65639462G>A GRCh37
NC_000011.8:g.65396038G>A NCBI36
NG_012304.2:g.5944C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307998.11:c.139C>T MANE Select ENSP00000309953.6:p.Pro47Ser
ENST00000307998.10:c.139C>T ENSP00000309953.6:p.Pro47Ser
ENST00000526624.5:c.139C>T ENSP00000435419.1:p.Pro47Ser
ENST00000527378.1:c.139C>T ENSP00000435963.1:p.Pro47Ser
ENST00000528176.5:c.139C>T ENSP00000434151.1:p.Pro47Ser
ENST00000529870.1:n.236C>T
ENST00000530850.1:c.149+215C>T ENSP00000437238.1:n.149+215C>T
ENST00000531005.5:n.29C>T
ENST00000531972.5:c.139C>T ENSP00000435295.1:p.Pro47Ser
ENST00000533347.5:c.139C>T ENSP00000435823.1:p.Pro47Ser
NM_016938.4:c.139C>T NP_058634.4:p.Pro47Ser
NR_037718.1:n.398C>T
NM_016938.5:c.139C>T MANE Select NP_058634.4:p.Pro47Ser
NR_037718.2:n.264C>T
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