Canonical Allele Identifier: CA6110482

Gene: EFEMP2

Linked Data

• dbSNP Id: rs758052109
• ExAC: 11:65635809 C / G
• gnomAD v2: 11-65635809-C-G
• gnomAD v4: 11-65868338-C-G
• MyVariant Identifiers: chr11:g.65635809C>G (hg19) ; chr11:g.65868338C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868338C>G , CM000673.2:g.65868338C>G	GRCh38
NC_000011.9:g.65635809C>G , CM000673.1:g.65635809C>G	GRCh37
NC_000011.8:g.65392385C>G	NCBI36
NG_012304.2:g.9597G>C
NG_053116.1:g.13277C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.931G>C MANE Select	ENSP00000309953.6:p.Asp311His
ENST00000307998.10:c.931G>C	ENSP00000309953.6:p.Asp311His
ENST00000525392.1:n.92G>C
ENST00000526628.5:n.1497G>C
ENST00000528176.5:c.931G>C	ENSP00000434151.1:p.Asp311His
ENST00000528409.1:n.175G>C
ENST00000530806.5:c.-68G>C	ENSP00000436526.1:n.-68G>C
ENST00000531005.5:n.1925G>C
ENST00000531645.5:c.79G>C	ENSP00000436521.1:p.Asp27His
ENST00000531972.5:c.931G>C	ENSP00000435295.1:p.Asp311His
ENST00000532084.5:n.357G>C
NM_016938.4:c.931G>C	NP_058634.4:p.Asp311His
NR_037718.1:n.1190G>C
NM_016938.5:c.931G>C MANE Select	NP_058634.4:p.Asp311His
NR_037718.2:n.1056G>C