Canonical Allele Identifier: CA1824881

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs755672126
• ExAC: 2:109524300 C / T
• gnomAD v2: 2-109524300-C-T
• gnomAD v3: 2-108907844-C-T
• gnomAD v4: 2-108907844-C-T
• MyVariant Identifiers: chr2:g.109524300C>T (hg19) ; chr2:g.108907844C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907844C>T , CM000664.2:g.108907844C>T	GRCh38
NC_000002.11:g.109524300C>T , CM000664.1:g.109524300C>T	GRCh37
NC_000002.10:g.108890732C>T	NCBI36
NG_008257.1:g.86529G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.963+16G>A (EDAR) MANE Select	ENSP00000258443.2:n.963+16G>A
ENST00000258443.6:c.963+16G>A (EDAR)	ENSP00000258443.2:n.963+16G>A
ENST00000376651.1:c.1059+16G>A (EDAR)	ENSP00000365839.1:n.1059+16G>A
ENST00000409271.5:c.1059+16G>A (EDAR)	ENSP00000386371.1:n.1059+16G>A
NM_022336.3:c.963+16G>A (EDAR)	NP_071731.1:n.963+16G>A
XM_006712204.1:c.1059+16G>A (EDAR)	XP_006712267.1:n.1059+16G>A
XM_011510502.1:c.1110+16G>A (EDAR)	XP_011508804.1:n.1110+16G>A
XM_011510503.1:c.1014+16G>A (EDAR)	XP_011508805.1:n.1014+16G>A
XM_011510504.1:c.390+16G>A (EDAR)	XP_011508806.1:n.390+16G>A
XM_011510502.2:c.1203+16G>A (EDAR)	XP_011508804.2:n.1203+16G>A
XM_011510503.2:c.1107+16G>A (EDAR)	XP_011508805.2:n.1107+16G>A
XM_017004623.2:c.8370+134798C>T (RANBP2)	XP_016860112.1:n.8370+134798C>T
NM_022336.4:c.963+16G>A (EDAR) MANE Select	NP_071731.1:n.963+16G>A