Canonical Allele Identifier: CA375219442
Gene: HMCN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130433427C>G , CM000671.2:g.130433427C>G GRCh38
NC_000009.11:g.133308814C>G , CM000671.1:g.133308814C>G GRCh37
NC_000009.10:g.132298635C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000624552.4:c.14917C>G ENSP00000485357.2:p.Leu4973Val
ENST00000683500.2:c.14974C>G MANE Select ENSP00000508292.2:p.Leu4992Val
ENST00000623487.1:n.3320C>G
ENST00000624552.3:c.14914C>G ENSP00000485357.1:p.Leu4972Val
NM_001291815.1:c.14974C>G NP_001278744.1:p.Leu4992Val
XM_011518465.1:c.14851C>G XP_011516767.1:p.Leu4951Val
XM_011518466.1:c.14842C>G XP_011516768.1:p.Leu4948Val
XM_011518467.1:c.14797C>G XP_011516769.1:p.Leu4933Val
NM_001291815.2:c.14974C>G MANE Select NP_001278744.1:p.Leu4992Val
XM_011518465.2:c.14851C>G XP_011516767.1:p.Leu4951Val
XM_011518466.2:c.14842C>G XP_011516768.1:p.Leu4948Val
XM_011518467.2:c.14797C>G XP_011516769.1:p.Leu4933Val
XM_017014585.1:c.11755C>G XP_016870074.1:p.Leu3919Val
XM_017014586.1:c.7552C>G XP_016870075.1:p.Leu2518Val
XR_001746957.1:n.92+194G>C
XR_001746958.1:n.92+194G>C