Canonical Allele Identifier: CA679356267

Gene: EFEMP2

Linked Data

• dbSNP Id: rs1211379322
• gnomAD v3: 11-65868691-A-G
• gnomAD v4: 11-65868691-A-G
• MyVariant Identifiers: chr11:g.65636162A>G (hg19) ; chr11:g.65868691A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868691A>G , CM000673.2:g.65868691A>G	GRCh38
NC_000011.9:g.65636162A>G , CM000673.1:g.65636162A>G	GRCh37
NC_000011.8:g.65392738A>G	NCBI36
NG_012304.2:g.9244T>C
NG_053116.1:g.13630A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.728-62T>C MANE Select	ENSP00000309953.6:n.728-62T>C
ENST00000307998.10:c.728-62T>C	ENSP00000309953.6:n.728-62T>C
ENST00000526628.5:n.1232T>C
ENST00000527969.1:n.1351T>C
ENST00000528176.5:c.728-62T>C	ENSP00000434151.1:n.728-62T>C
ENST00000531005.5:n.1722-62T>C
ENST00000531972.5:c.728-62T>C	ENSP00000435295.1:n.728-62T>C
ENST00000532084.5:n.154-62T>C
NM_016938.4:c.728-62T>C	NP_058634.4:n.728-62T>C
NR_037718.1:n.987-62T>C
NM_016938.5:c.728-62T>C MANE Select	NP_058634.4:n.728-62T>C
NR_037718.2:n.853-62T>C