Canonical Allele Identifier: CA381357322

Gene: EFEMP2

Linked Data

• MyVariant Identifiers: chr11:g.65636070A>G (hg19) ; chr11:g.65868599A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868599A>G , CM000673.2:g.65868599A>G	GRCh38
NC_000011.9:g.65636070A>G , CM000673.1:g.65636070A>G	GRCh37
NC_000011.8:g.65392646A>G	NCBI36
NG_012304.2:g.9336T>C
NG_053116.1:g.13538A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.758T>C MANE Select	ENSP00000309953.6:p.Leu253Pro
ENST00000307998.10:c.758T>C	ENSP00000309953.6:p.Leu253Pro
ENST00000526628.5:n.1324T>C
ENST00000527969.1:n.1443T>C
ENST00000528176.5:c.758T>C	ENSP00000434151.1:p.Leu253Pro
ENST00000531005.5:n.1752T>C
ENST00000531972.5:c.758T>C	ENSP00000435295.1:p.Leu253Pro
ENST00000532084.5:n.184T>C
NM_016938.4:c.758T>C	NP_058634.4:p.Leu253Pro
NR_037718.1:n.1017T>C
NM_016938.5:c.758T>C MANE Select	NP_058634.4:p.Leu253Pro
NR_037718.2:n.883T>C