Canonical Allele Identifier: CA599855948

Gene: EFEMP2

Linked Data

• dbSNP Id: rs1390540040
• gnomAD v2: 11-65636144-T-A
• gnomAD v3: 11-65868673-T-A
• gnomAD v4: 11-65868673-T-A
• MyVariant Identifiers: chr11:g.65636144T>A (hg19) ; chr11:g.65868673T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868673T>A , CM000673.2:g.65868673T>A	GRCh38
NC_000011.9:g.65636144T>A , CM000673.1:g.65636144T>A	GRCh37
NC_000011.8:g.65392720T>A	NCBI36
NG_012304.2:g.9262A>T
NG_053116.1:g.13612T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.728-44A>T MANE Select	ENSP00000309953.6:n.728-44A>T
ENST00000307998.10:c.728-44A>T	ENSP00000309953.6:n.728-44A>T
ENST00000526628.5:n.1250A>T
ENST00000527969.1:n.1369A>T
ENST00000528176.5:c.728-44A>T	ENSP00000434151.1:n.728-44A>T
ENST00000531005.5:n.1722-44A>T
ENST00000531972.5:c.728-44A>T	ENSP00000435295.1:n.728-44A>T
ENST00000532084.5:n.154-44A>T
NM_016938.4:c.728-44A>T	NP_058634.4:n.728-44A>T
NR_037718.1:n.987-44A>T
NM_016938.5:c.728-44A>T MANE Select	NP_058634.4:n.728-44A>T
NR_037718.2:n.853-44A>T