Canonical Allele Identifier: CA375219593
Gene: HMCN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130433464C>G , CM000671.2:g.130433464C>G GRCh38
NC_000009.11:g.133308851C>G , CM000671.1:g.133308851C>G GRCh37
NC_000009.10:g.132298672C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000624552.4:c.14954C>G ENSP00000485357.2:p.Thr4985Ser
ENST00000683500.2:c.15011C>G MANE Select ENSP00000508292.2:p.Thr5004Ser
ENST00000623487.1:n.3357C>G
ENST00000624552.3:c.14951C>G ENSP00000485357.1:p.Thr4984Ser
NM_001291815.1:c.15011C>G NP_001278744.1:p.Thr5004Ser
XM_011518465.1:c.14888C>G XP_011516767.1:p.Thr4963Ser
XM_011518466.1:c.14879C>G XP_011516768.1:p.Thr4960Ser
XM_011518467.1:c.14834C>G XP_011516769.1:p.Thr4945Ser
NM_001291815.2:c.15011C>G MANE Select NP_001278744.1:p.Thr5004Ser
XM_011518465.2:c.14888C>G XP_011516767.1:p.Thr4963Ser
XM_011518466.2:c.14879C>G XP_011516768.1:p.Thr4960Ser
XM_011518467.2:c.14834C>G XP_011516769.1:p.Thr4945Ser
XM_017014585.1:c.11792C>G XP_016870074.1:p.Thr3931Ser
XM_017014586.1:c.7589C>G XP_016870075.1:p.Thr2530Ser
XR_001746957.1:n.92+157G>C
XR_001746958.1:n.92+157G>C