Canonical Allele Identifier: CA375219370

Gene: HMCN2

Linked Data

• MyVariant Identifiers: chr9:g.133308794A>T (hg19) ; chr9:g.130433407A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433407A>T , CM000671.2:g.130433407A>T	GRCh38
NC_000009.11:g.133308794A>T , CM000671.1:g.133308794A>T	GRCh37
NC_000009.10:g.132298615A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14897A>T	ENSP00000485357.2:p.Tyr4966Phe
ENST00000683500.2:c.14954A>T MANE Select	ENSP00000508292.2:p.Tyr4985Phe
ENST00000623487.1:n.3300A>T
ENST00000624552.3:c.14894A>T	ENSP00000485357.1:p.Tyr4965Phe
NM_001291815.1:c.14954A>T	NP_001278744.1:p.Tyr4985Phe
XM_011518465.1:c.14831A>T	XP_011516767.1:p.Tyr4944Phe
XM_011518466.1:c.14822A>T	XP_011516768.1:p.Tyr4941Phe
XM_011518467.1:c.14777A>T	XP_011516769.1:p.Tyr4926Phe
NM_001291815.2:c.14954A>T MANE Select	NP_001278744.1:p.Tyr4985Phe
XM_011518465.2:c.14831A>T	XP_011516767.1:p.Tyr4944Phe
XM_011518466.2:c.14822A>T	XP_011516768.1:p.Tyr4941Phe
XM_011518467.2:c.14777A>T	XP_011516769.1:p.Tyr4926Phe
XM_017014585.1:c.11735A>T	XP_016870074.1:p.Tyr3912Phe
XM_017014586.1:c.7532A>T	XP_016870075.1:p.Tyr2511Phe
XR_001746957.1:n.92+214T>A
XR_001746958.1:n.92+214T>A