Canonical Allele Identifier: CA599855950

Gene: EFEMP2

Linked Data

• dbSNP Id: rs1196831694
• gnomAD v2: 11-65636182-A-G
• gnomAD v3: 11-65868711-A-G
• gnomAD v4: 11-65868711-A-G
• MyVariant Identifiers: chr11:g.65636182A>G (hg19) ; chr11:g.65868711A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868711A>G , CM000673.2:g.65868711A>G	GRCh38
NC_000011.9:g.65636182A>G , CM000673.1:g.65636182A>G	GRCh37
NC_000011.8:g.65392758A>G	NCBI36
NG_012304.2:g.9224T>C
NG_053116.1:g.13650A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.728-82T>C MANE Select	ENSP00000309953.6:n.728-82T>C
ENST00000307998.10:c.728-82T>C	ENSP00000309953.6:n.728-82T>C
ENST00000526628.5:n.1212T>C
ENST00000527969.1:n.1331T>C
ENST00000528176.5:c.728-82T>C	ENSP00000434151.1:n.728-82T>C
ENST00000531005.5:n.1722-82T>C
ENST00000531972.5:c.728-82T>C	ENSP00000435295.1:n.728-82T>C
ENST00000532084.5:n.154-82T>C
NM_016938.4:c.728-82T>C	NP_058634.4:n.728-82T>C
NR_037718.1:n.987-82T>C
NM_016938.5:c.728-82T>C MANE Select	NP_058634.4:n.728-82T>C
NR_037718.2:n.853-82T>C