Canonical Allele Identifier: CA679355826

Gene: EFEMP2

Linked Data

• dbSNP Id: rs1202896001
• gnomAD v3: 11-65868243-A-G
• gnomAD v4: 11-65868243-A-G
• MyVariant Identifiers: chr11:g.65635714A>G (hg19) ; chr11:g.65868243A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868243A>G , CM000673.2:g.65868243A>G	GRCh38
NC_000011.9:g.65635714A>G , CM000673.1:g.65635714A>G	GRCh37
NC_000011.8:g.65392290A>G	NCBI36
NG_012304.2:g.9692T>C
NG_053116.1:g.13182A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.974+52T>C MANE Select	ENSP00000309953.6:n.974+52T>C
ENST00000307998.10:c.974+52T>C	ENSP00000309953.6:n.974+52T>C
ENST00000525392.1:n.135+52T>C
ENST00000526628.5:n.1540+52T>C
ENST00000528176.5:c.974+52T>C	ENSP00000434151.1:n.974+52T>C
ENST00000528409.1:n.207+63T>C
ENST00000530806.5:c.-25+52T>C	ENSP00000436526.1:n.-25+52T>C
ENST00000531005.5:n.1968+52T>C
ENST00000531645.5:c.122+52T>C	ENSP00000436521.1:n.122+52T>C
ENST00000531972.5:c.974+52T>C	ENSP00000435295.1:n.974+52T>C
ENST00000532084.5:n.400+52T>C
NM_016938.4:c.974+52T>C	NP_058634.4:n.974+52T>C
NR_037718.1:n.1233+52T>C
NM_016938.5:c.974+52T>C MANE Select	NP_058634.4:n.974+52T>C
NR_037718.2:n.1099+52T>C