Canonical Allele Identifier: CA348050981

Gene: EDAR RANBP2

Linked Data

• gnomAD v4: 2-108907933-G-C
• MyVariant Identifiers: chr2:g.109524389G>C (hg19) ; chr2:g.108907933G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907933G>C , CM000664.2:g.108907933G>C	GRCh38
NC_000002.11:g.109524389G>C , CM000664.1:g.109524389G>C	GRCh37
NC_000002.10:g.108890821G>C	NCBI36
NG_008257.1:g.86440C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.890C>G (EDAR) MANE Select	ENSP00000258443.2:p.Ser297Cys
ENST00000258443.6:c.890C>G (EDAR)	ENSP00000258443.2:p.Ser297Cys
ENST00000376651.1:c.986C>G (EDAR)	ENSP00000365839.1:p.Ser329Cys
ENST00000409271.5:c.986C>G (EDAR)	ENSP00000386371.1:p.Ser329Cys
NM_022336.3:c.890C>G (EDAR)	NP_071731.1:p.Ser297Cys
XM_006712204.1:c.986C>G (EDAR)	XP_006712267.1:p.Ser329Cys
XM_011510502.1:c.1037C>G (EDAR)	XP_011508804.1:p.Ser346Cys
XM_011510503.1:c.941C>G (EDAR)	XP_011508805.1:p.Ser314Cys
XM_011510504.1:c.317C>G (EDAR)	XP_011508806.1:p.Ser106Cys
XM_011510502.2:c.1130C>G (EDAR)	XP_011508804.2:p.Ser377Cys
XM_011510503.2:c.1034C>G (EDAR)	XP_011508805.2:p.Ser345Cys
XM_017004623.2:c.8370+134887G>C (RANBP2)	XP_016860112.1:n.8370+134887G>C
NM_022336.4:c.890C>G (EDAR) MANE Select	NP_071731.1:p.Ser297Cys