Canonical Allele Identifier: CA348050749

Gene: EDAR RANBP2

Linked Data

• gnomAD v4: 2-108907876-C-T
• MyVariant Identifiers: chr2:g.109524332C>T (hg19) ; chr2:g.108907876C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907876C>T , CM000664.2:g.108907876C>T	GRCh38
NC_000002.11:g.109524332C>T , CM000664.1:g.109524332C>T	GRCh37
NC_000002.10:g.108890764C>T	NCBI36
NG_008257.1:g.86497G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.947G>A (EDAR) MANE Select	ENSP00000258443.2:p.Ser316Asn
ENST00000258443.6:c.947G>A (EDAR)	ENSP00000258443.2:p.Ser316Asn
ENST00000376651.1:c.1043G>A (EDAR)	ENSP00000365839.1:p.Ser348Asn
ENST00000409271.5:c.1043G>A (EDAR)	ENSP00000386371.1:p.Ser348Asn
NM_022336.3:c.947G>A (EDAR)	NP_071731.1:p.Ser316Asn
XM_006712204.1:c.1043G>A (EDAR)	XP_006712267.1:p.Ser348Asn
XM_011510502.1:c.1094G>A (EDAR)	XP_011508804.1:p.Ser365Asn
XM_011510503.1:c.998G>A (EDAR)	XP_011508805.1:p.Ser333Asn
XM_011510504.1:c.374G>A (EDAR)	XP_011508806.1:p.Ser125Asn
XM_011510502.2:c.1187G>A (EDAR)	XP_011508804.2:p.Ser396Asn
XM_011510503.2:c.1091G>A (EDAR)	XP_011508805.2:p.Ser364Asn
XM_017004623.2:c.8370+134830C>T (RANBP2)	XP_016860112.1:n.8370+134830C>T
NM_022336.4:c.947G>A (EDAR) MANE Select	NP_071731.1:p.Ser316Asn