Canonical Allele Identifier: CA224016824

Gene: EFEMP2

Linked Data

• dbSNP Id: rs977178424
• MyVariant Identifiers: chr11:g.65635707G>A (hg19) ; chr11:g.65868236G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868236G>A , CM000673.2:g.65868236G>A	GRCh38
NC_000011.9:g.65635707G>A , CM000673.1:g.65635707G>A	GRCh37
NC_000011.8:g.65392283G>A	NCBI36
NG_012304.2:g.9699C>T
NG_053116.1:g.13175G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.974+59C>T MANE Select	ENSP00000309953.6:n.974+59C>T
ENST00000307998.10:c.974+59C>T	ENSP00000309953.6:n.974+59C>T
ENST00000525392.1:n.135+59C>T
ENST00000526628.5:n.1540+59C>T
ENST00000528176.5:c.974+59C>T	ENSP00000434151.1:n.974+59C>T
ENST00000528409.1:n.207+70C>T
ENST00000530806.5:c.-25+59C>T	ENSP00000436526.1:n.-25+59C>T
ENST00000531005.5:n.1968+59C>T
ENST00000531645.5:c.122+59C>T	ENSP00000436521.1:n.122+59C>T
ENST00000531972.5:c.974+59C>T	ENSP00000435295.1:n.974+59C>T
ENST00000532084.5:n.400+59C>T
NM_016938.4:c.974+59C>T	NP_058634.4:n.974+59C>T
NR_037718.1:n.1233+59C>T
NM_016938.5:c.974+59C>T MANE Select	NP_058634.4:n.974+59C>T
NR_037718.2:n.1099+59C>T