Canonical Allele Identifier: CA375219194
Gene: HMCN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130433362G>T , CM000671.2:g.130433362G>T GRCh38
NC_000009.11:g.133308749G>T , CM000671.1:g.133308749G>T GRCh37
NC_000009.10:g.132298570G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000624552.4:c.14852G>T ENSP00000485357.2:p.Arg4951Leu
ENST00000683500.2:c.14909G>T MANE Select ENSP00000508292.2:p.Arg4970Leu
ENST00000623487.1:n.3255G>T
ENST00000624552.3:c.14849G>T ENSP00000485357.1:p.Arg4950Leu
NM_001291815.1:c.14909G>T NP_001278744.1:p.Arg4970Leu
XM_011518465.1:c.14786G>T XP_011516767.1:p.Arg4929Leu
XM_011518466.1:c.14777G>T XP_011516768.1:p.Arg4926Leu
XM_011518467.1:c.14732G>T XP_011516769.1:p.Arg4911Leu
NM_001291815.2:c.14909G>T MANE Select NP_001278744.1:p.Arg4970Leu
XM_011518465.2:c.14786G>T XP_011516767.1:p.Arg4929Leu
XM_011518466.2:c.14777G>T XP_011516768.1:p.Arg4926Leu
XM_011518467.2:c.14732G>T XP_011516769.1:p.Arg4911Leu
XM_017014585.1:c.11690G>T XP_016870074.1:p.Arg3897Leu
XM_017014586.1:c.7487G>T XP_016870075.1:p.Arg2496Leu
XR_001746957.1:n.92+259C>A
XR_001746958.1:n.92+259C>A