Canonical Allele Identifier: CA53472741

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs1016527377
• gnomAD v2: 2-109523905-C-T
• gnomAD v3: 2-108907449-C-T
• gnomAD v4: 2-108907449-C-T
• MyVariant Identifiers: chr2:g.109523905C>T (hg19) ; chr2:g.108907449C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907449C>T , CM000664.2:g.108907449C>T	GRCh38
NC_000002.11:g.109523905C>T , CM000664.1:g.109523905C>T	GRCh37
NC_000002.10:g.108890337C>T	NCBI36
NG_008257.1:g.86924G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.963+411G>A (EDAR) MANE Select	ENSP00000258443.2:n.963+411G>A
ENST00000258443.6:c.963+411G>A (EDAR)	ENSP00000258443.2:n.963+411G>A
ENST00000376651.1:c.1059+411G>A (EDAR)	ENSP00000365839.1:n.1059+411G>A
ENST00000409271.5:c.1059+411G>A (EDAR)	ENSP00000386371.1:n.1059+411G>A
NM_022336.3:c.963+411G>A (EDAR)	NP_071731.1:n.963+411G>A
XM_006712204.1:c.1059+411G>A (EDAR)	XP_006712267.1:n.1059+411G>A
XM_011510502.1:c.1110+411G>A (EDAR)	XP_011508804.1:n.1110+411G>A
XM_011510503.1:c.1014+411G>A (EDAR)	XP_011508805.1:n.1014+411G>A
XM_011510504.1:c.390+411G>A (EDAR)	XP_011508806.1:n.390+411G>A
XM_011510502.2:c.1203+411G>A (EDAR)	XP_011508804.2:n.1203+411G>A
XM_011510503.2:c.1107+411G>A (EDAR)	XP_011508805.2:n.1107+411G>A
XM_017004623.2:c.8370+134403C>T (RANBP2)	XP_016860112.1:n.8370+134403C>T
NM_022336.4:c.963+411G>A (EDAR) MANE Select	NP_071731.1:n.963+411G>A