Canonical Allele Identifier: CA1825250

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs754448928
• ExAC: 2:109547429 G / A
• gnomAD v2: 2-109547429-G-A
• gnomAD v3: 2-108930973-G-A
• gnomAD v4: 2-108930973-G-A
• MyVariant Identifiers: chr2:g.109547429G>A (hg19) ; chr2:g.108930973G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108930973G>A , CM000664.2:g.108930973G>A	GRCh38
NC_000002.11:g.109547429G>A , CM000664.1:g.109547429G>A	GRCh37
NC_000002.10:g.108913861G>A	NCBI36
NG_008257.1:g.63400C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.42C>T (EDAR) MANE Select	ENSP00000258443.2:p.Pro14=
ENST00000258443.6:c.42C>T (EDAR)	ENSP00000258443.2:p.Pro14=
ENST00000376651.1:c.42C>T (EDAR)	ENSP00000365839.1:p.Pro14=
ENST00000409271.5:c.42C>T (EDAR)	ENSP00000386371.1:p.Pro14=
NM_022336.3:c.42C>T (EDAR)	NP_071731.1:p.Pro14=
XM_006712204.1:c.42C>T (EDAR)	XP_006712267.1:p.Pro14=
XM_011510502.1:c.93C>T (EDAR)	XP_011508804.1:p.Pro31=
XM_011510503.1:c.93C>T (EDAR)	XP_011508805.1:p.Pro31=
XM_011510502.2:c.186C>T (EDAR)	XP_011508804.2:p.Pro62=
XM_011510503.2:c.186C>T (EDAR)	XP_011508805.2:p.Pro62=
XM_017004623.2:c.8370+157927G>A (RANBP2)	XP_016860112.1:n.8370+157927G>A
NM_022336.4:c.42C>T (EDAR) MANE Select	NP_071731.1:p.Pro14=