Canonical Allele Identifier: CA2692135464

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433300-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433300C>T , CM000671.2:g.130433300C>T	GRCh38
NC_000009.11:g.133308687C>T , CM000671.1:g.133308687C>T	GRCh37
NC_000009.10:g.132298508C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14838-48C>T	ENSP00000485357.2:n.14838-48C>T
ENST00000683500.2:c.14895-48C>T MANE Select	ENSP00000508292.2:n.14895-48C>T
ENST00000623487.1:n.3193C>T
ENST00000624552.3:c.14835-48C>T	ENSP00000485357.1:n.14835-48C>T
NM_001291815.1:c.14895-48C>T	NP_001278744.1:n.14895-48C>T
XM_011518465.1:c.14772-48C>T	XP_011516767.1:n.14772-48C>T
XM_011518466.1:c.14763-48C>T	XP_011516768.1:n.14763-48C>T
XM_011518467.1:c.14718-48C>T	XP_011516769.1:n.14718-48C>T
NM_001291815.2:c.14895-48C>T MANE Select	NP_001278744.1:n.14895-48C>T
XM_011518465.2:c.14772-48C>T	XP_011516767.1:n.14772-48C>T
XM_011518466.2:c.14763-48C>T	XP_011516768.1:n.14763-48C>T
XM_011518467.2:c.14718-48C>T	XP_011516769.1:n.14718-48C>T
XM_017014585.1:c.11676-48C>T	XP_016870074.1:n.11676-48C>T
XM_017014586.1:c.7473-48C>T	XP_016870075.1:n.7473-48C>T
XR_001746957.1:n.92+321G>A
XR_001746958.1:n.92+321G>A