Canonical Allele Identifier: CA348051014

Gene: EDAR RANBP2

Linked Data

• MyVariant Identifiers: chr2:g.109524404G>A (hg19) ; chr2:g.108907948G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907948G>A , CM000664.2:g.108907948G>A	GRCh38
NC_000002.11:g.109524404G>A , CM000664.1:g.109524404G>A	GRCh37
NC_000002.10:g.108890836G>A	NCBI36
NG_008257.1:g.86425C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.875C>T (EDAR) MANE Select	ENSP00000258443.2:p.Pro292Leu
ENST00000258443.6:c.875C>T (EDAR)	ENSP00000258443.2:p.Pro292Leu
ENST00000376651.1:c.971C>T (EDAR)	ENSP00000365839.1:p.Pro324Leu
ENST00000409271.5:c.971C>T (EDAR)	ENSP00000386371.1:p.Pro324Leu
NM_022336.3:c.875C>T (EDAR)	NP_071731.1:p.Pro292Leu
XM_006712204.1:c.971C>T (EDAR)	XP_006712267.1:p.Pro324Leu
XM_011510502.1:c.1022C>T (EDAR)	XP_011508804.1:p.Pro341Leu
XM_011510503.1:c.926C>T (EDAR)	XP_011508805.1:p.Pro309Leu
XM_011510504.1:c.302C>T (EDAR)	XP_011508806.1:p.Pro101Leu
XM_011510502.2:c.1115C>T (EDAR)	XP_011508804.2:p.Pro372Leu
XM_011510503.2:c.1019C>T (EDAR)	XP_011508805.2:p.Pro340Leu
XM_017004623.2:c.8370+134902G>A (RANBP2)	XP_016860112.1:n.8370+134902G>A
NM_022336.4:c.875C>T (EDAR) MANE Select	NP_071731.1:p.Pro292Leu