Canonical Allele Identifier: CA1034841344

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs1696838842
• gnomAD v3: 2-108907763-G-A
• gnomAD v4: 2-108907763-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907763G>A , CM000664.2:g.108907763G>A	GRCh38
NC_000002.11:g.109524219G>A , CM000664.1:g.109524219G>A	GRCh37
NC_000002.10:g.108890651G>A	NCBI36
NG_008257.1:g.86610C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.963+97C>T (EDAR) MANE Select	ENSP00000258443.2:n.963+97C>T
ENST00000258443.6:c.963+97C>T (EDAR)	ENSP00000258443.2:n.963+97C>T
ENST00000376651.1:c.1059+97C>T (EDAR)	ENSP00000365839.1:n.1059+97C>T
ENST00000409271.5:c.1059+97C>T (EDAR)	ENSP00000386371.1:n.1059+97C>T
NM_022336.3:c.963+97C>T (EDAR)	NP_071731.1:n.963+97C>T
XM_006712204.1:c.1059+97C>T (EDAR)	XP_006712267.1:n.1059+97C>T
XM_011510502.1:c.1110+97C>T (EDAR)	XP_011508804.1:n.1110+97C>T
XM_011510503.1:c.1014+97C>T (EDAR)	XP_011508805.1:n.1014+97C>T
XM_011510504.1:c.390+97C>T (EDAR)	XP_011508806.1:n.390+97C>T
XM_011510502.2:c.1203+97C>T (EDAR)	XP_011508804.2:n.1203+97C>T
XM_011510503.2:c.1107+97C>T (EDAR)	XP_011508805.2:n.1107+97C>T
XM_017004623.2:c.8370+134717G>A (RANBP2)	XP_016860112.1:n.8370+134717G>A
NM_022336.4:c.963+97C>T (EDAR) MANE Select	NP_071731.1:n.963+97C>T