Canonical Allele Identifier: CA600229768

Gene: EFEMP2

Linked Data

• dbSNP Id: rs1464570056
• gnomAD v2: 11-65635720-C-T
• gnomAD v4: 11-65868249-C-T
• MyVariant Identifiers: chr11:g.65635720C>T (hg19) ; chr11:g.65868249C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868249C>T , CM000673.2:g.65868249C>T	GRCh38
NC_000011.9:g.65635720C>T , CM000673.1:g.65635720C>T	GRCh37
NC_000011.8:g.65392296C>T	NCBI36
NG_012304.2:g.9686G>A
NG_053116.1:g.13188C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.974+46G>A MANE Select	ENSP00000309953.6:n.974+46G>A
ENST00000307998.10:c.974+46G>A	ENSP00000309953.6:n.974+46G>A
ENST00000525392.1:n.135+46G>A
ENST00000526628.5:n.1540+46G>A
ENST00000528176.5:c.974+46G>A	ENSP00000434151.1:n.974+46G>A
ENST00000528409.1:n.207+57G>A
ENST00000530806.5:c.-25+46G>A	ENSP00000436526.1:n.-25+46G>A
ENST00000531005.5:n.1968+46G>A
ENST00000531645.5:c.122+46G>A	ENSP00000436521.1:n.122+46G>A
ENST00000531972.5:c.974+46G>A	ENSP00000435295.1:n.974+46G>A
ENST00000532084.5:n.400+46G>A
NM_016938.4:c.974+46G>A	NP_058634.4:n.974+46G>A
NR_037718.1:n.1233+46G>A
NM_016938.5:c.974+46G>A MANE Select	NP_058634.4:n.974+46G>A
NR_037718.2:n.1099+46G>A