Canonical Allele Identifier: CA375219551

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433452-T-G
• MyVariant Identifiers: chr9:g.133308839T>G (hg19) ; chr9:g.130433452T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14942T>G	ENSP00000485357.2:p.Val4981Gly
ENST00000683500.2:c.14999T>G MANE Select	ENSP00000508292.2:p.Val5000Gly
ENST00000623487.1:n.3345T>G
ENST00000624552.3:c.14939T>G	ENSP00000485357.1:p.Val4980Gly
NM_001291815.1:c.14999T>G	NP_001278744.1:p.Val5000Gly
XM_011518465.1:c.14876T>G	XP_011516767.1:p.Val4959Gly
XM_011518466.1:c.14867T>G	XP_011516768.1:p.Val4956Gly
XM_011518467.1:c.14822T>G	XP_011516769.1:p.Val4941Gly
NM_001291815.2:c.14999T>G MANE Select	NP_001278744.1:p.Val5000Gly
XM_011518465.2:c.14876T>G	XP_011516767.1:p.Val4959Gly
XM_011518466.2:c.14867T>G	XP_011516768.1:p.Val4956Gly
XM_011518467.2:c.14822T>G	XP_011516769.1:p.Val4941Gly
XM_017014585.1:c.11780T>G	XP_016870074.1:p.Val3927Gly
XM_017014586.1:c.7577T>G	XP_016870075.1:p.Val2526Gly
XR_001746957.1:n.92+169A>C
XR_001746958.1:n.92+169A>C