Canonical Allele Identifier: CA381354327

Gene: EFEMP2

Linked Data

• dbSNP Id: rs1859905042
• gnomAD v3: 11-65868510-C-T
• gnomAD v4: 11-65868510-C-T
• MyVariant Identifiers: chr11:g.65635981C>T (hg19) ; chr11:g.65868510C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868510C>T , CM000673.2:g.65868510C>T	GRCh38
NC_000011.9:g.65635981C>T , CM000673.1:g.65635981C>T	GRCh37
NC_000011.8:g.65392557C>T	NCBI36
NG_012304.2:g.9425G>A
NG_053116.1:g.13449C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.847G>A MANE Select	ENSP00000309953.6:p.Asp283Asn
ENST00000307998.10:c.847G>A	ENSP00000309953.6:p.Asp283Asn
ENST00000526628.5:n.1413G>A
ENST00000527969.1:n.1532G>A
ENST00000528176.5:c.847G>A	ENSP00000434151.1:p.Asp283Asn
ENST00000528409.1:n.3G>A
ENST00000530806.5:c.-152G>A	ENSP00000436526.1:n.-152G>A
ENST00000531005.5:n.1841G>A
ENST00000531972.5:c.847G>A	ENSP00000435295.1:p.Asp283Asn
ENST00000532084.5:n.273G>A
NM_016938.4:c.847G>A	NP_058634.4:p.Asp283Asn
NR_037718.1:n.1106G>A
NM_016938.5:c.847G>A MANE Select	NP_058634.4:p.Asp283Asn
NR_037718.2:n.972G>A