Canonical Allele Identifier: CA1824914

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs143674939
• ExAC: 2:109524475 G / A
• gnomAD v2: 2-109524475-G-A
• gnomAD v3: 2-108908019-G-A
• gnomAD v4: 2-108908019-G-A
• COSMIC: COSM4084125 ; COSM4084126
• MyVariant Identifiers: chr2:g.109524475G>A (hg19) ; chr2:g.108908019G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108908019G>A , CM000664.2:g.108908019G>A	GRCh38
NC_000002.11:g.109524475G>A , CM000664.1:g.109524475G>A	GRCh37
NC_000002.10:g.108890907G>A	NCBI36
NG_008257.1:g.86354C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.804C>T (EDAR) MANE Select	ENSP00000258443.2:p.Ser268=
ENST00000258443.6:c.804C>T (EDAR)	ENSP00000258443.2:p.Ser268=
ENST00000376651.1:c.900C>T (EDAR)	ENSP00000365839.1:p.Ser300=
ENST00000409271.5:c.900C>T (EDAR)	ENSP00000386371.1:p.Ser300=
NM_022336.3:c.804C>T (EDAR)	NP_071731.1:p.Ser268=
XM_006712204.1:c.900C>T (EDAR)	XP_006712267.1:p.Ser300=
XM_011510502.1:c.951C>T (EDAR)	XP_011508804.1:p.Ser317=
XM_011510503.1:c.855C>T (EDAR)	XP_011508805.1:p.Ser285=
XM_011510504.1:c.231C>T (EDAR)	XP_011508806.1:p.Ser77=
XM_011510502.2:c.1044C>T (EDAR)	XP_011508804.2:p.Ser348=
XM_011510503.2:c.948C>T (EDAR)	XP_011508805.2:p.Ser316=
XM_017004623.2:c.8370+134973G>A (RANBP2)	XP_016860112.1:n.8370+134973G>A
NM_022336.4:c.804C>T (EDAR) MANE Select	NP_071731.1:p.Ser268=