Canonical Allele Identifier: CA375219500
Gene: HMCN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130433442C>A , CM000671.2:g.130433442C>A GRCh38
NC_000009.11:g.133308829C>A , CM000671.1:g.133308829C>A GRCh37
NC_000009.10:g.132298650C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000624552.4:c.14932C>A ENSP00000485357.2:p.His4978Asn
ENST00000683500.2:c.14989C>A MANE Select ENSP00000508292.2:p.His4997Asn
ENST00000623487.1:n.3335C>A
ENST00000624552.3:c.14929C>A ENSP00000485357.1:p.His4977Asn
NM_001291815.1:c.14989C>A NP_001278744.1:p.His4997Asn
XM_011518465.1:c.14866C>A XP_011516767.1:p.His4956Asn
XM_011518466.1:c.14857C>A XP_011516768.1:p.His4953Asn
XM_011518467.1:c.14812C>A XP_011516769.1:p.His4938Asn
NM_001291815.2:c.14989C>A MANE Select NP_001278744.1:p.His4997Asn
XM_011518465.2:c.14866C>A XP_011516767.1:p.His4956Asn
XM_011518466.2:c.14857C>A XP_011516768.1:p.His4953Asn
XM_011518467.2:c.14812C>A XP_011516769.1:p.His4938Asn
XM_017014585.1:c.11770C>A XP_016870074.1:p.His3924Asn
XM_017014586.1:c.7567C>A XP_016870075.1:p.His2523Asn
XR_001746957.1:n.92+179G>T
XR_001746958.1:n.92+179G>T