Canonical Allele Identifier: CA6110537

Gene: EFEMP2

Linked Data

• dbSNP Id: rs369517593
• ExAC: 11:65636122 G / A
• gnomAD v2: 11-65636122-G-A
• gnomAD v3: 11-65868651-G-A
• gnomAD v4: 11-65868651-G-A
• MyVariant Identifiers: chr11:g.65636122G>A (hg19) ; chr11:g.65868651G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868651G>A , CM000673.2:g.65868651G>A	GRCh38
NC_000011.9:g.65636122G>A , CM000673.1:g.65636122G>A	GRCh37
NC_000011.8:g.65392698G>A	NCBI36
NG_012304.2:g.9284C>T
NG_053116.1:g.13590G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.728-22C>T MANE Select	ENSP00000309953.6:n.728-22C>T
ENST00000307998.10:c.728-22C>T	ENSP00000309953.6:n.728-22C>T
ENST00000526628.5:n.1272C>T
ENST00000527969.1:n.1391C>T
ENST00000528176.5:c.728-22C>T	ENSP00000434151.1:n.728-22C>T
ENST00000531005.5:n.1722-22C>T
ENST00000531972.5:c.728-22C>T	ENSP00000435295.1:n.728-22C>T
ENST00000532084.5:n.154-22C>T
NM_016938.4:c.728-22C>T	NP_058634.4:n.728-22C>T
NR_037718.1:n.987-22C>T
NM_016938.5:c.728-22C>T MANE Select	NP_058634.4:n.728-22C>T
NR_037718.2:n.853-22C>T