Canonical Allele Identifier: CA375219513

Gene: HMCN2

Linked Data

• MyVariant Identifiers: chr9:g.133308831C>G (hg19) ; chr9:g.130433444C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433444C>G , CM000671.2:g.130433444C>G	GRCh38
NC_000009.11:g.133308831C>G , CM000671.1:g.133308831C>G	GRCh37
NC_000009.10:g.132298652C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14934C>G	ENSP00000485357.2:p.His4978Gln
ENST00000683500.2:c.14991C>G MANE Select	ENSP00000508292.2:p.His4997Gln
ENST00000623487.1:n.3337C>G
ENST00000624552.3:c.14931C>G	ENSP00000485357.1:p.His4977Gln
NM_001291815.1:c.14991C>G	NP_001278744.1:p.His4997Gln
XM_011518465.1:c.14868C>G	XP_011516767.1:p.His4956Gln
XM_011518466.1:c.14859C>G	XP_011516768.1:p.His4953Gln
XM_011518467.1:c.14814C>G	XP_011516769.1:p.His4938Gln
NM_001291815.2:c.14991C>G MANE Select	NP_001278744.1:p.His4997Gln
XM_011518465.2:c.14868C>G	XP_011516767.1:p.His4956Gln
XM_011518466.2:c.14859C>G	XP_011516768.1:p.His4953Gln
XM_011518467.2:c.14814C>G	XP_011516769.1:p.His4938Gln
XM_017014585.1:c.11772C>G	XP_016870074.1:p.His3924Gln
XM_017014586.1:c.7569C>G	XP_016870075.1:p.His2523Gln
XR_001746957.1:n.92+177G>C
XR_001746958.1:n.92+177G>C