Canonical Allele Identifier: CA348047979

Gene: EDAR RANBP2

Linked Data

• ClinVar Variation Id: 2021435
• ClinVar RCV Id: RCV002862652
• MyVariant Identifiers: chr2:g.109513502G>C (hg19) ; chr2:g.108897046G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897046G>C , CM000664.2:g.108897046G>C	GRCh38
NC_000002.11:g.109513502G>C , CM000664.1:g.109513502G>C	GRCh37
NC_000002.10:g.108879934G>C	NCBI36
NG_008257.1:g.97327C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.1208C>G (EDAR) MANE Select	ENSP00000258443.2:p.Thr403Arg
ENST00000258443.6:c.1208C>G (EDAR)	ENSP00000258443.2:p.Thr403Arg
ENST00000376651.1:c.1304C>G (EDAR)	ENSP00000365839.1:p.Thr435Arg
ENST00000409271.5:c.1304C>G (EDAR)	ENSP00000386371.1:p.Thr435Arg
NM_022336.3:c.1208C>G (EDAR)	NP_071731.1:p.Thr403Arg
XM_006712204.1:c.1304C>G (EDAR)	XP_006712267.1:p.Thr435Arg
XM_011510502.1:c.1355C>G (EDAR)	XP_011508804.1:p.Thr452Arg
XM_011510503.1:c.1259C>G (EDAR)	XP_011508805.1:p.Thr420Arg
XM_011510504.1:c.635C>G (EDAR)	XP_011508806.1:p.Thr212Arg
XM_011510502.2:c.1448C>G (EDAR)	XP_011508804.2:p.Thr483Arg
XM_011510503.2:c.1352C>G (EDAR)	XP_011508805.2:p.Thr451Arg
XM_017004623.2:c.8370+124000G>C (RANBP2)	XP_016860112.1:n.8370+124000G>C
NM_022336.4:c.1208C>G (EDAR) MANE Select	NP_071731.1:p.Thr403Arg