Canonical Allele Identifier: CA6110408

Gene: EFEMP2

Linked Data

• ClinVar Variation Id: 540025
• ClinVar RCV Id: RCV000649945
• dbSNP Id: rs373485109
• ExAC: 11:65635397 A / G
• gnomAD v2: 11-65635397-A-G
• gnomAD v3: 11-65867926-A-G
• gnomAD v4: 11-65867926-A-G
• MyVariant Identifiers: chr11:g.65635397A>G (hg19) ; chr11:g.65867926A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65867926A>G , CM000673.2:g.65867926A>G	GRCh38
NC_000011.9:g.65635397A>G , CM000673.1:g.65635397A>G	GRCh37
NC_000011.8:g.65391973A>G	NCBI36
NG_012304.2:g.10009T>C
NG_053116.1:g.12865A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.1105T>C MANE Select	ENSP00000309953.6:p.Tyr369His
ENST00000307998.10:c.1105T>C	ENSP00000309953.6:p.Tyr369His
ENST00000525392.1:n.266T>C
ENST00000526628.5:n.1671T>C
ENST00000526911.1:c.82T>C	ENSP00000436536.1:p.Tyr28His
ENST00000528176.5:c.1105T>C	ENSP00000434151.1:p.Tyr369His
ENST00000528409.1:n.338T>C
ENST00000530806.5:c.64T>C	ENSP00000436526.1:p.Tyr22His
ENST00000531005.5:n.2099T>C
ENST00000531645.5:c.253T>C	ENSP00000436521.1:p.Tyr85His
ENST00000531972.5:c.1105T>C	ENSP00000435295.1:p.Tyr369His
ENST00000532084.5:n.531T>C
NM_016938.4:c.1105T>C	NP_058634.4:p.Tyr369His
NR_037718.1:n.1364T>C
NM_016938.5:c.1105T>C MANE Select	NP_058634.4:p.Tyr369His
NR_037718.2:n.1230T>C