Canonical Allele Identifier: CA375219308
Gene: HMCN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130433394T>C , CM000671.2:g.130433394T>C GRCh38
NC_000009.11:g.133308781T>C , CM000671.1:g.133308781T>C GRCh37
NC_000009.10:g.132298602T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000624552.4:c.14884T>C ENSP00000485357.2:p.Ser4962Pro
ENST00000683500.2:c.14941T>C MANE Select ENSP00000508292.2:p.Ser4981Pro
ENST00000623487.1:n.3287T>C
ENST00000624552.3:c.14881T>C ENSP00000485357.1:p.Ser4961Pro
NM_001291815.1:c.14941T>C NP_001278744.1:p.Ser4981Pro
XM_011518465.1:c.14818T>C XP_011516767.1:p.Ser4940Pro
XM_011518466.1:c.14809T>C XP_011516768.1:p.Ser4937Pro
XM_011518467.1:c.14764T>C XP_011516769.1:p.Ser4922Pro
NM_001291815.2:c.14941T>C MANE Select NP_001278744.1:p.Ser4981Pro
XM_011518465.2:c.14818T>C XP_011516767.1:p.Ser4940Pro
XM_011518466.2:c.14809T>C XP_011516768.1:p.Ser4937Pro
XM_011518467.2:c.14764T>C XP_011516769.1:p.Ser4922Pro
XM_017014585.1:c.11722T>C XP_016870074.1:p.Ser3908Pro
XM_017014586.1:c.7519T>C XP_016870075.1:p.Ser2507Pro
XR_001746957.1:n.92+227A>G
XR_001746958.1:n.92+227A>G