Canonical Allele Identifier: CA1824874

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs149325005
• ExAC: 2:109524267 T / G
• gnomAD v2: 2-109524267-T-G
• MyVariant Identifiers: chr2:g.109524267T>G (hg19) ; chr2:g.108907811T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907811T>G , CM000664.2:g.108907811T>G	GRCh38
NC_000002.11:g.109524267T>G , CM000664.1:g.109524267T>G	GRCh37
NC_000002.10:g.108890699T>G	NCBI36
NG_008257.1:g.86562A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.963+49A>C (EDAR) MANE Select	ENSP00000258443.2:n.963+49A>C
ENST00000258443.6:c.963+49A>C (EDAR)	ENSP00000258443.2:n.963+49A>C
ENST00000376651.1:c.1059+49A>C (EDAR)	ENSP00000365839.1:n.1059+49A>C
ENST00000409271.5:c.1059+49A>C (EDAR)	ENSP00000386371.1:n.1059+49A>C
NM_022336.3:c.963+49A>C (EDAR)	NP_071731.1:n.963+49A>C
XM_006712204.1:c.1059+49A>C (EDAR)	XP_006712267.1:n.1059+49A>C
XM_011510502.1:c.1110+49A>C (EDAR)	XP_011508804.1:n.1110+49A>C
XM_011510503.1:c.1014+49A>C (EDAR)	XP_011508805.1:n.1014+49A>C
XM_011510504.1:c.390+49A>C (EDAR)	XP_011508806.1:n.390+49A>C
XM_011510502.2:c.1203+49A>C (EDAR)	XP_011508804.2:n.1203+49A>C
XM_011510503.2:c.1107+49A>C (EDAR)	XP_011508805.2:n.1107+49A>C
XM_017004623.2:c.8370+134765T>G (RANBP2)	XP_016860112.1:n.8370+134765T>G
NM_022336.4:c.963+49A>C (EDAR) MANE Select	NP_071731.1:n.963+49A>C