Canonical Allele Identifier: CA375219340
Gene: HMCN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130433401T>A , CM000671.2:g.130433401T>A GRCh38
NC_000009.11:g.133308788T>A , CM000671.1:g.133308788T>A GRCh37
NC_000009.10:g.132298609T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000624552.4:c.14891T>A ENSP00000485357.2:p.Leu4964Gln
ENST00000683500.2:c.14948T>A MANE Select ENSP00000508292.2:p.Leu4983Gln
ENST00000623487.1:n.3294T>A
ENST00000624552.3:c.14888T>A ENSP00000485357.1:p.Leu4963Gln
NM_001291815.1:c.14948T>A NP_001278744.1:p.Leu4983Gln
XM_011518465.1:c.14825T>A XP_011516767.1:p.Leu4942Gln
XM_011518466.1:c.14816T>A XP_011516768.1:p.Leu4939Gln
XM_011518467.1:c.14771T>A XP_011516769.1:p.Leu4924Gln
NM_001291815.2:c.14948T>A MANE Select NP_001278744.1:p.Leu4983Gln
XM_011518465.2:c.14825T>A XP_011516767.1:p.Leu4942Gln
XM_011518466.2:c.14816T>A XP_011516768.1:p.Leu4939Gln
XM_011518467.2:c.14771T>A XP_011516769.1:p.Leu4924Gln
XM_017014585.1:c.11729T>A XP_016870074.1:p.Leu3910Gln
XM_017014586.1:c.7526T>A XP_016870075.1:p.Leu2509Gln
XR_001746957.1:n.92+220A>T
XR_001746958.1:n.92+220A>T