Canonical Allele Identifier: CA381362062

Gene: EFEMP2

Linked Data

• dbSNP Id: rs754676480
• gnomAD v4: 11-65870555-C-G
• MyVariant Identifiers: chr11:g.65638026C>G (hg19) ; chr11:g.65870555C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65870555C>G , CM000673.2:g.65870555C>G	GRCh38
NC_000011.9:g.65638026C>G , CM000673.1:g.65638026C>G	GRCh37
NC_000011.8:g.65394602C>G	NCBI36
NG_012304.2:g.7380G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.471G>C MANE Select	ENSP00000309953.6:p.Lys157Asn
ENST00000307998.10:c.471G>C	ENSP00000309953.6:p.Lys157Asn
ENST00000526624.5:c.471G>C	ENSP00000435419.1:p.Lys157Asn
ENST00000527378.1:c.471G>C	ENSP00000435963.1:p.Lys157Asn
ENST00000527969.1:n.150G>C
ENST00000528176.5:c.471G>C	ENSP00000434151.1:p.Lys157Asn
ENST00000530850.1:c.*283G>C	ENSP00000437238.1:n.*283G>C
ENST00000531005.5:n.1465G>C
ENST00000531972.5:c.471G>C	ENSP00000435295.1:p.Lys157Asn
ENST00000533347.5:c.*283G>C	ENSP00000435823.1:n.*283G>C
NM_016938.4:c.471G>C	NP_058634.4:p.Lys157Asn
NR_037718.1:n.730G>C
NM_016938.5:c.471G>C MANE Select	NP_058634.4:p.Lys157Asn
NR_037718.2:n.596G>C