Canonical Allele Identifier: CA348047440

Gene: EDAR RANBP2

Linked Data

• MyVariant Identifiers: chr2:g.109513376T>G (hg19) ; chr2:g.108896920T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108896920T>G , CM000664.2:g.108896920T>G	GRCh38
NC_000002.11:g.109513376T>G , CM000664.1:g.109513376T>G	GRCh37
NC_000002.10:g.108879808T>G	NCBI36
NG_008257.1:g.97453A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1334A>C (EDAR) MANE Select	ENSP00000258443.2:p.His445Pro
ENST00000258443.6:c.1334A>C (EDAR)	ENSP00000258443.2:p.His445Pro
ENST00000376651.1:c.1430A>C (EDAR)	ENSP00000365839.1:p.His477Pro
ENST00000409271.5:c.1430A>C (EDAR)	ENSP00000386371.1:p.His477Pro
NM_022336.3:c.1334A>C (EDAR)	NP_071731.1:p.His445Pro
XM_006712204.1:c.1430A>C (EDAR)	XP_006712267.1:p.His477Pro
XM_011510502.1:c.1481A>C (EDAR)	XP_011508804.1:p.His494Pro
XM_011510503.1:c.1385A>C (EDAR)	XP_011508805.1:p.His462Pro
XM_011510504.1:c.761A>C (EDAR)	XP_011508806.1:p.His254Pro
XM_011510502.2:c.1574A>C (EDAR)	XP_011508804.2:p.His525Pro
XM_011510503.2:c.1478A>C (EDAR)	XP_011508805.2:p.His493Pro
XM_017004623.2:c.8370+123874T>G (RANBP2)	XP_016860112.1:n.8370+123874T>G
NM_022336.4:c.1334A>C (EDAR) MANE Select	NP_071731.1:p.His445Pro