Canonical Allele Identifier: CA375219540
Gene: HMCN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130433449A>T , CM000671.2:g.130433449A>T GRCh38
NC_000009.11:g.133308836A>T , CM000671.1:g.133308836A>T GRCh37
NC_000009.10:g.132298657A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000624552.4:c.14939A>T ENSP00000485357.2:p.Asp4980Val
ENST00000683500.2:c.14996A>T MANE Select ENSP00000508292.2:p.Asp4999Val
ENST00000623487.1:n.3342A>T
ENST00000624552.3:c.14936A>T ENSP00000485357.1:p.Asp4979Val
NM_001291815.1:c.14996A>T NP_001278744.1:p.Asp4999Val
XM_011518465.1:c.14873A>T XP_011516767.1:p.Asp4958Val
XM_011518466.1:c.14864A>T XP_011516768.1:p.Asp4955Val
XM_011518467.1:c.14819A>T XP_011516769.1:p.Asp4940Val
NM_001291815.2:c.14996A>T MANE Select NP_001278744.1:p.Asp4999Val
XM_011518465.2:c.14873A>T XP_011516767.1:p.Asp4958Val
XM_011518466.2:c.14864A>T XP_011516768.1:p.Asp4955Val
XM_011518467.2:c.14819A>T XP_011516769.1:p.Asp4940Val
XM_017014585.1:c.11777A>T XP_016870074.1:p.Asp3926Val
XM_017014586.1:c.7574A>T XP_016870075.1:p.Asp2525Val
XR_001746957.1:n.92+172T>A
XR_001746958.1:n.92+172T>A