Canonical Allele Identifier: CA348050785

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs1312967441
• COSMIC: COSM5557976 ; COSM5557977
• MyVariant Identifiers: chr2:g.109524343C>G (hg19) ; chr2:g.108907887C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907887C>G , CM000664.2:g.108907887C>G	GRCh38
NC_000002.11:g.109524343C>G , CM000664.1:g.109524343C>G	GRCh37
NC_000002.10:g.108890775C>G	NCBI36
NG_008257.1:g.86486G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.936G>C (EDAR) MANE Select	ENSP00000258443.2:p.Lys312Asn
ENST00000258443.6:c.936G>C (EDAR)	ENSP00000258443.2:p.Lys312Asn
ENST00000376651.1:c.1032G>C (EDAR)	ENSP00000365839.1:p.Lys344Asn
ENST00000409271.5:c.1032G>C (EDAR)	ENSP00000386371.1:p.Lys344Asn
NM_022336.3:c.936G>C (EDAR)	NP_071731.1:p.Lys312Asn
XM_006712204.1:c.1032G>C (EDAR)	XP_006712267.1:p.Lys344Asn
XM_011510502.1:c.1083G>C (EDAR)	XP_011508804.1:p.Lys361Asn
XM_011510503.1:c.987G>C (EDAR)	XP_011508805.1:p.Lys329Asn
XM_011510504.1:c.363G>C (EDAR)	XP_011508806.1:p.Lys121Asn
XM_011510502.2:c.1176G>C (EDAR)	XP_011508804.2:p.Lys392Asn
XM_011510503.2:c.1080G>C (EDAR)	XP_011508805.2:p.Lys360Asn
XM_017004623.2:c.8370+134841C>G (RANBP2)	XP_016860112.1:n.8370+134841C>G
NM_022336.4:c.936G>C (EDAR) MANE Select	NP_071731.1:p.Lys312Asn