Canonical Allele Identifier: CA375219204

Gene: HMCN2

Linked Data

• MyVariant Identifiers: chr9:g.133308753C>G (hg19) ; chr9:g.130433366C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433366C>G , CM000671.2:g.130433366C>G	GRCh38
NC_000009.11:g.133308753C>G , CM000671.1:g.133308753C>G	GRCh37
NC_000009.10:g.132298574C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14856C>G	ENSP00000485357.2:p.Cys4952Trp
ENST00000683500.2:c.14913C>G MANE Select	ENSP00000508292.2:p.Cys4971Trp
ENST00000623487.1:n.3259C>G
ENST00000624552.3:c.14853C>G	ENSP00000485357.1:p.Cys4951Trp
NM_001291815.1:c.14913C>G	NP_001278744.1:p.Cys4971Trp
XM_011518465.1:c.14790C>G	XP_011516767.1:p.Cys4930Trp
XM_011518466.1:c.14781C>G	XP_011516768.1:p.Cys4927Trp
XM_011518467.1:c.14736C>G	XP_011516769.1:p.Cys4912Trp
NM_001291815.2:c.14913C>G MANE Select	NP_001278744.1:p.Cys4971Trp
XM_011518465.2:c.14790C>G	XP_011516767.1:p.Cys4930Trp
XM_011518466.2:c.14781C>G	XP_011516768.1:p.Cys4927Trp
XM_011518467.2:c.14736C>G	XP_011516769.1:p.Cys4912Trp
XM_017014585.1:c.11694C>G	XP_016870074.1:p.Cys3898Trp
XM_017014586.1:c.7491C>G	XP_016870075.1:p.Cys2497Trp
XR_001746957.1:n.92+255G>C
XR_001746958.1:n.92+255G>C