Canonical Allele Identifier: CA2692135087

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433089-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433089C>T , CM000671.2:g.130433089C>T	GRCh38
NC_000009.11:g.133308476C>T , CM000671.1:g.133308476C>T	GRCh37
NC_000009.10:g.132298297C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14838-259C>T	ENSP00000485357.2:n.14838-259C>T
ENST00000683500.2:c.14895-259C>T MANE Select	ENSP00000508292.2:n.14895-259C>T
ENST00000623487.1:n.2982C>T
ENST00000624552.3:c.14835-259C>T	ENSP00000485357.1:n.14835-259C>T
NM_001291815.1:c.14895-259C>T	NP_001278744.1:n.14895-259C>T
XM_011518465.1:c.14772-259C>T	XP_011516767.1:n.14772-259C>T
XM_011518466.1:c.14763-259C>T	XP_011516768.1:n.14763-259C>T
XM_011518467.1:c.14718-259C>T	XP_011516769.1:n.14718-259C>T
NM_001291815.2:c.14895-259C>T MANE Select	NP_001278744.1:n.14895-259C>T
XM_011518465.2:c.14772-259C>T	XP_011516767.1:n.14772-259C>T
XM_011518466.2:c.14763-259C>T	XP_011516768.1:n.14763-259C>T
XM_011518467.2:c.14718-259C>T	XP_011516769.1:n.14718-259C>T
XM_017014585.1:c.11676-259C>T	XP_016870074.1:n.11676-259C>T
XM_017014586.1:c.7473-259C>T	XP_016870075.1:n.7473-259C>T
XR_001746957.1:n.92+532G>A
XR_001746958.1:n.92+532G>A