Canonical Allele Identifier: CA6110539

Gene: EFEMP2

Linked Data

• dbSNP Id: rs767233775
• ExAC: 11:65636125 C / T
• gnomAD v2: 11-65636125-C-T
• gnomAD v3: 11-65868654-C-T
• gnomAD v4: 11-65868654-C-T
• MyVariant Identifiers: chr11:g.65636125C>T (hg19) ; chr11:g.65868654C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868654C>T , CM000673.2:g.65868654C>T	GRCh38
NC_000011.9:g.65636125C>T , CM000673.1:g.65636125C>T	GRCh37
NC_000011.8:g.65392701C>T	NCBI36
NG_012304.2:g.9281G>A
NG_053116.1:g.13593C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.728-25G>A MANE Select	ENSP00000309953.6:n.728-25G>A
ENST00000307998.10:c.728-25G>A	ENSP00000309953.6:n.728-25G>A
ENST00000526628.5:n.1269G>A
ENST00000527969.1:n.1388G>A
ENST00000528176.5:c.728-25G>A	ENSP00000434151.1:n.728-25G>A
ENST00000531005.5:n.1722-25G>A
ENST00000531972.5:c.728-25G>A	ENSP00000435295.1:n.728-25G>A
ENST00000532084.5:n.154-25G>A
NM_016938.4:c.728-25G>A	NP_058634.4:n.728-25G>A
NR_037718.1:n.987-25G>A
NM_016938.5:c.728-25G>A MANE Select	NP_058634.4:n.728-25G>A
NR_037718.2:n.853-25G>A