Canonical Allele Identifier: CA375219549

Gene: HMCN2

Linked Data

• dbSNP Id: rs1174515791
• gnomAD v2: 9-133308839-T-A
• gnomAD v3: 9-130433452-T-A
• gnomAD v4: 9-130433452-T-A
• MyVariant Identifiers: chr9:g.133308839T>A (hg19) ; chr9:g.130433452T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433452T>A , CM000671.2:g.130433452T>A	GRCh38
NC_000009.11:g.133308839T>A , CM000671.1:g.133308839T>A	GRCh37
NC_000009.10:g.132298660T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14942T>A	ENSP00000485357.2:p.Val4981Glu
ENST00000683500.2:c.14999T>A MANE Select	ENSP00000508292.2:p.Val5000Glu
ENST00000623487.1:n.3345T>A
ENST00000624552.3:c.14939T>A	ENSP00000485357.1:p.Val4980Glu
NM_001291815.1:c.14999T>A	NP_001278744.1:p.Val5000Glu
XM_011518465.1:c.14876T>A	XP_011516767.1:p.Val4959Glu
XM_011518466.1:c.14867T>A	XP_011516768.1:p.Val4956Glu
XM_011518467.1:c.14822T>A	XP_011516769.1:p.Val4941Glu
NM_001291815.2:c.14999T>A MANE Select	NP_001278744.1:p.Val5000Glu
XM_011518465.2:c.14876T>A	XP_011516767.1:p.Val4959Glu
XM_011518466.2:c.14867T>A	XP_011516768.1:p.Val4956Glu
XM_011518467.2:c.14822T>A	XP_011516769.1:p.Val4941Glu
XM_017014585.1:c.11780T>A	XP_016870074.1:p.Val3927Glu
XM_017014586.1:c.7577T>A	XP_016870075.1:p.Val2526Glu
XR_001746957.1:n.92+169A>T
XR_001746958.1:n.92+169A>T