Canonical Allele Identifier: CA375219595

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433464-C-T
• MyVariant Identifiers: chr9:g.133308851C>T (hg19) ; chr9:g.130433464C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433464C>T , CM000671.2:g.130433464C>T	GRCh38
NC_000009.11:g.133308851C>T , CM000671.1:g.133308851C>T	GRCh37
NC_000009.10:g.132298672C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14954C>T	ENSP00000485357.2:p.Thr4985Ile
ENST00000683500.2:c.15011C>T MANE Select	ENSP00000508292.2:p.Thr5004Ile
ENST00000623487.1:n.3357C>T
ENST00000624552.3:c.14951C>T	ENSP00000485357.1:p.Thr4984Ile
NM_001291815.1:c.15011C>T	NP_001278744.1:p.Thr5004Ile
XM_011518465.1:c.14888C>T	XP_011516767.1:p.Thr4963Ile
XM_011518466.1:c.14879C>T	XP_011516768.1:p.Thr4960Ile
XM_011518467.1:c.14834C>T	XP_011516769.1:p.Thr4945Ile
NM_001291815.2:c.15011C>T MANE Select	NP_001278744.1:p.Thr5004Ile
XM_011518465.2:c.14888C>T	XP_011516767.1:p.Thr4963Ile
XM_011518466.2:c.14879C>T	XP_011516768.1:p.Thr4960Ile
XM_011518467.2:c.14834C>T	XP_011516769.1:p.Thr4945Ile
XM_017014585.1:c.11792C>T	XP_016870074.1:p.Thr3931Ile
XM_017014586.1:c.7589C>T	XP_016870075.1:p.Thr2530Ile
XR_001746957.1:n.92+157G>A
XR_001746958.1:n.92+157G>A