Canonical Allele Identifier: CA599855944

Gene: EFEMP2

Linked Data

• dbSNP Id: rs1341197111
• gnomAD v2: 11-65636108-A-C
• gnomAD v4: 11-65868637-A-C
• MyVariant Identifiers: chr11:g.65636108A>C (hg19) ; chr11:g.65868637A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868637A>C , CM000673.2:g.65868637A>C	GRCh38
NC_000011.9:g.65636108A>C , CM000673.1:g.65636108A>C	GRCh37
NC_000011.8:g.65392684A>C	NCBI36
NG_012304.2:g.9298T>G
NG_053116.1:g.13576A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.728-8T>G MANE Select	ENSP00000309953.6:n.728-8T>G
ENST00000307998.10:c.728-8T>G	ENSP00000309953.6:n.728-8T>G
ENST00000526628.5:n.1286T>G
ENST00000527969.1:n.1405T>G
ENST00000528176.5:c.728-8T>G	ENSP00000434151.1:n.728-8T>G
ENST00000531005.5:n.1722-8T>G
ENST00000531972.5:c.728-8T>G	ENSP00000435295.1:n.728-8T>G
ENST00000532084.5:n.154-8T>G
NM_016938.4:c.728-8T>G	NP_058634.4:n.728-8T>G
NR_037718.1:n.987-8T>G
NM_016938.5:c.728-8T>G MANE Select	NP_058634.4:n.728-8T>G
NR_037718.2:n.853-8T>G