Canonical Allele Identifier: CA381356452

Gene: EFEMP2

Linked Data

• gnomAD v4: 11-65868544-C-A
• MyVariant Identifiers: chr11:g.65636015C>A (hg19) ; chr11:g.65868544C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868544C>A , CM000673.2:g.65868544C>A	GRCh38
NC_000011.9:g.65636015C>A , CM000673.1:g.65636015C>A	GRCh37
NC_000011.8:g.65392591C>A	NCBI36
NG_012304.2:g.9391G>T
NG_053116.1:g.13483C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.813G>T MANE Select	ENSP00000309953.6:p.Gln271His
ENST00000307998.10:c.813G>T	ENSP00000309953.6:p.Gln271His
ENST00000526628.5:n.1379G>T
ENST00000527969.1:n.1498G>T
ENST00000528176.5:c.813G>T	ENSP00000434151.1:p.Gln271His
ENST00000531005.5:n.1807G>T
ENST00000531972.5:c.813G>T	ENSP00000435295.1:p.Gln271His
ENST00000532084.5:n.239G>T
NM_016938.4:c.813G>T	NP_058634.4:p.Gln271His
NR_037718.1:n.1072G>T
NM_016938.5:c.813G>T MANE Select	NP_058634.4:p.Gln271His
NR_037718.2:n.938G>T