Canonical Allele Identifier: CA348050696

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs571016790
• gnomAD v2: 2-109524318-C-A
• gnomAD v4: 2-108907862-C-A
• MyVariant Identifiers: chr2:g.109524318C>A (hg19) ; chr2:g.108907862C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907862C>A , CM000664.2:g.108907862C>A	GRCh38
NC_000002.11:g.109524318C>A , CM000664.1:g.109524318C>A	GRCh37
NC_000002.10:g.108890750C>A	NCBI36
NG_008257.1:g.86511G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.961G>T (EDAR) MANE Select	ENSP00000258443.2:p.Gly321Trp
ENST00000258443.6:c.961G>T (EDAR)	ENSP00000258443.2:p.Gly321Trp
ENST00000376651.1:c.1057G>T (EDAR)	ENSP00000365839.1:p.Gly353Trp
ENST00000409271.5:c.1057G>T (EDAR)	ENSP00000386371.1:p.Gly353Trp
NM_022336.3:c.961G>T (EDAR)	NP_071731.1:p.Gly321Trp
XM_006712204.1:c.1057G>T (EDAR)	XP_006712267.1:p.Gly353Trp
XM_011510502.1:c.1108G>T (EDAR)	XP_011508804.1:p.Gly370Trp
XM_011510503.1:c.1012G>T (EDAR)	XP_011508805.1:p.Gly338Trp
XM_011510504.1:c.388G>T (EDAR)	XP_011508806.1:p.Gly130Trp
XM_011510502.2:c.1201G>T (EDAR)	XP_011508804.2:p.Gly401Trp
XM_011510503.2:c.1105G>T (EDAR)	XP_011508805.2:p.Gly369Trp
XM_017004623.2:c.8370+134816C>A (RANBP2)	XP_016860112.1:n.8370+134816C>A
NM_022336.4:c.961G>T (EDAR) MANE Select	NP_071731.1:p.Gly321Trp