Canonical Allele Identifier: CA6110535
Gene: EFEMP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 507578
ClinVar RCV Id: RCV000649948 RCV001712623 RCV002384320 RCV003927964
dbSNP Id: rs377139656
ExAC: 11:65636103 G / A
gnomAD v2: 11-65636103-G-A
gnomAD v3: 11-65868632-G-A
gnomAD v4: 11-65868632-G-A
MyVariant Identifiers: chr11:g.65636103G>A (hg19) chr11:g.65868632G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65868632G>A , CM000673.2:g.65868632G>A GRCh38
NC_000011.9:g.65636103G>A , CM000673.1:g.65636103G>A GRCh37
NC_000011.8:g.65392679G>A NCBI36
NG_012304.2:g.9303C>T
NG_053116.1:g.13571G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307998.11:c.728-3C>T MANE Select ENSP00000309953.6:n.728-3C>T
ENST00000307998.10:c.728-3C>T ENSP00000309953.6:n.728-3C>T
ENST00000526628.5:n.1291C>T
ENST00000527969.1:n.1410C>T
ENST00000528176.5:c.728-3C>T ENSP00000434151.1:n.728-3C>T
ENST00000531005.5:n.1722-3C>T
ENST00000531972.5:c.728-3C>T ENSP00000435295.1:n.728-3C>T
ENST00000532084.5:n.154-3C>T
NM_016938.4:c.728-3C>T NP_058634.4:n.728-3C>T
NR_037718.1:n.987-3C>T
NM_016938.5:c.728-3C>T MANE Select NP_058634.4:n.728-3C>T
NR_037718.2:n.853-3C>T
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