Canonical Allele Identifier: CA428086819

Linked Data

MyVariant Identifiers: chr2:g.109545698T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108929242T>G , CM000664.2:g.108929242T>G GRCh38
NC_000002.11:g.109545698T>G , CM000664.1:g.109545698T>G GRCh37
NC_000002.10:g.108912130T>G NCBI36
NG_008257.1:g.65131A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000258443.7:c.312A>C (EDAR) MANE Select ENSP00000258443.2:p.Pro104=
ENST00000258443.6:c.312A>C (EDAR) ENSP00000258443.2:p.Pro104=
ENST00000376651.1:c.312A>C (EDAR) ENSP00000365839.1:p.Pro104=
ENST00000409271.5:c.312A>C (EDAR) ENSP00000386371.1:p.Pro104=
NM_022336.3:c.312A>C (EDAR) NP_071731.1:p.Pro104=
XM_006712204.1:c.312A>C (EDAR) XP_006712267.1:p.Pro104=
XM_011510502.1:c.363A>C (EDAR) XP_011508804.1:p.Pro121=
XM_011510503.1:c.363A>C (EDAR) XP_011508805.1:p.Pro121=
XM_011510502.2:c.456A>C (EDAR) XP_011508804.2:p.Pro152=
XM_011510503.2:c.456A>C (EDAR) XP_011508805.2:p.Pro152=
XM_017004623.2:c.8370+156196T>G (RANBP2) XP_016860112.1:n.8370+156196T>G
NM_022336.4:c.312A>C (EDAR) MANE Select NP_071731.1:p.Pro104=