Canonical Allele Identifier: CA381353135

Gene: EFEMP2

Linked Data

• dbSNP Id: rs1064796673
• gnomAD v2: 11-65635802-T-C
• gnomAD v3: 11-65868331-T-C
• gnomAD v4: 11-65868331-T-C
• MyVariant Identifiers: chr11:g.65635802T>C (hg19) ; chr11:g.65868331T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868331T>C , CM000673.2:g.65868331T>C	GRCh38
NC_000011.9:g.65635802T>C , CM000673.1:g.65635802T>C	GRCh37
NC_000011.8:g.65392378T>C	NCBI36
NG_012304.2:g.9604A>G
NG_053116.1:g.13270T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.938A>G MANE Select	ENSP00000309953.6:p.Asn313Ser
ENST00000307998.10:c.938A>G	ENSP00000309953.6:p.Asn313Ser
ENST00000525392.1:n.99A>G
ENST00000526628.5:n.1504A>G
ENST00000528176.5:c.938A>G	ENSP00000434151.1:p.Asn313Ser
ENST00000528409.1:n.182A>G
ENST00000530806.5:c.-61A>G	ENSP00000436526.1:n.-61A>G
ENST00000531005.5:n.1932A>G
ENST00000531645.5:c.86A>G	ENSP00000436521.1:p.Asn29Ser
ENST00000531972.5:c.938A>G	ENSP00000435295.1:p.Asn313Ser
ENST00000532084.5:n.364A>G
NM_016938.4:c.938A>G	NP_058634.4:p.Asn313Ser
NR_037718.1:n.1197A>G
NM_016938.5:c.938A>G MANE Select	NP_058634.4:p.Asn313Ser
NR_037718.2:n.1063A>G