Canonical Allele Identifier: CA381357605

Gene: EFEMP2

Linked Data

• gnomAD v4: 11-65868614-C-G
• MyVariant Identifiers: chr11:g.65636085C>G (hg19) ; chr11:g.65868614C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868614C>G , CM000673.2:g.65868614C>G	GRCh38
NC_000011.9:g.65636085C>G , CM000673.1:g.65636085C>G	GRCh37
NC_000011.8:g.65392661C>G	NCBI36
NG_012304.2:g.9321G>C
NG_053116.1:g.13553C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.743G>C MANE Select	ENSP00000309953.6:p.Ser248Thr
ENST00000307998.10:c.743G>C	ENSP00000309953.6:p.Ser248Thr
ENST00000526628.5:n.1309G>C
ENST00000527969.1:n.1428G>C
ENST00000528176.5:c.743G>C	ENSP00000434151.1:p.Ser248Thr
ENST00000531005.5:n.1737G>C
ENST00000531972.5:c.743G>C	ENSP00000435295.1:p.Ser248Thr
ENST00000532084.5:n.169G>C
NM_016938.4:c.743G>C	NP_058634.4:p.Ser248Thr
NR_037718.1:n.1002G>C
NM_016938.5:c.743G>C MANE Select	NP_058634.4:p.Ser248Thr
NR_037718.2:n.868G>C