Canonical Allele Identifier: CA1824810

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs772778887
• ExAC: 2:109513570 G / A
• gnomAD v2: 2-109513570-G-A
• gnomAD v3: 2-108897114-G-A
• gnomAD v4: 2-108897114-G-A
• MyVariant Identifiers: chr2:g.109513570G>A (hg19) ; chr2:g.108897114G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897114G>A , CM000664.2:g.108897114G>A	GRCh38
NC_000002.11:g.109513570G>A , CM000664.1:g.109513570G>A	GRCh37
NC_000002.10:g.108880002G>A	NCBI36
NG_008257.1:g.97259C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.1140C>T (EDAR) MANE Select	ENSP00000258443.2:p.Ser380=
ENST00000258443.6:c.1140C>T (EDAR)	ENSP00000258443.2:p.Ser380=
ENST00000376651.1:c.1236C>T (EDAR)	ENSP00000365839.1:p.Ser412=
ENST00000409271.5:c.1236C>T (EDAR)	ENSP00000386371.1:p.Ser412=
NM_022336.3:c.1140C>T (EDAR)	NP_071731.1:p.Ser380=
XM_006712204.1:c.1236C>T (EDAR)	XP_006712267.1:p.Ser412=
XM_011510502.1:c.1287C>T (EDAR)	XP_011508804.1:p.Ser429=
XM_011510503.1:c.1191C>T (EDAR)	XP_011508805.1:p.Ser397=
XM_011510504.1:c.567C>T (EDAR)	XP_011508806.1:p.Ser189=
XM_011510502.2:c.1380C>T (EDAR)	XP_011508804.2:p.Ser460=
XM_011510503.2:c.1284C>T (EDAR)	XP_011508805.2:p.Ser428=
XM_017004623.2:c.8370+124068G>A (RANBP2)	XP_016860112.1:n.8370+124068G>A
NM_022336.4:c.1140C>T (EDAR) MANE Select	NP_071731.1:p.Ser380=