Canonical Allele Identifier: CA375219299

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433392-C-T
• MyVariant Identifiers: chr9:g.133308779C>T (hg19) ; chr9:g.130433392C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433392C>T , CM000671.2:g.130433392C>T	GRCh38
NC_000009.11:g.133308779C>T , CM000671.1:g.133308779C>T	GRCh37
NC_000009.10:g.132298600C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14882C>T	ENSP00000485357.2:p.Pro4961Leu
ENST00000683500.2:c.14939C>T MANE Select	ENSP00000508292.2:p.Pro4980Leu
ENST00000623487.1:n.3285C>T
ENST00000624552.3:c.14879C>T	ENSP00000485357.1:p.Pro4960Leu
NM_001291815.1:c.14939C>T	NP_001278744.1:p.Pro4980Leu
XM_011518465.1:c.14816C>T	XP_011516767.1:p.Pro4939Leu
XM_011518466.1:c.14807C>T	XP_011516768.1:p.Pro4936Leu
XM_011518467.1:c.14762C>T	XP_011516769.1:p.Pro4921Leu
NM_001291815.2:c.14939C>T MANE Select	NP_001278744.1:p.Pro4980Leu
XM_011518465.2:c.14816C>T	XP_011516767.1:p.Pro4939Leu
XM_011518466.2:c.14807C>T	XP_011516768.1:p.Pro4936Leu
XM_011518467.2:c.14762C>T	XP_011516769.1:p.Pro4921Leu
XM_017014585.1:c.11720C>T	XP_016870074.1:p.Pro3907Leu
XM_017014586.1:c.7517C>T	XP_016870075.1:p.Pro2506Leu
XR_001746957.1:n.92+229G>A
XR_001746958.1:n.92+229G>A