Canonical Allele Identifier: CA2692134931

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130432973-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130432973A>T , CM000671.2:g.130432973A>T	GRCh38
NC_000009.11:g.133308360A>T , CM000671.1:g.133308360A>T	GRCh37
NC_000009.10:g.132298181A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14838-375A>T	ENSP00000485357.2:n.14838-375A>T
ENST00000683500.2:c.14895-375A>T MANE Select	ENSP00000508292.2:n.14895-375A>T
ENST00000623487.1:n.2866A>T
ENST00000624552.3:c.14835-375A>T	ENSP00000485357.1:n.14835-375A>T
NM_001291815.1:c.14895-375A>T	NP_001278744.1:n.14895-375A>T
XM_011518465.1:c.14772-375A>T	XP_011516767.1:n.14772-375A>T
XM_011518466.1:c.14763-375A>T	XP_011516768.1:n.14763-375A>T
XM_011518467.1:c.14718-375A>T	XP_011516769.1:n.14718-375A>T
NM_001291815.2:c.14895-375A>T MANE Select	NP_001278744.1:n.14895-375A>T
XM_011518465.2:c.14772-375A>T	XP_011516767.1:n.14772-375A>T
XM_011518466.2:c.14763-375A>T	XP_011516768.1:n.14763-375A>T
XM_011518467.2:c.14718-375A>T	XP_011516769.1:n.14718-375A>T
XM_017014585.1:c.11676-375A>T	XP_016870074.1:n.11676-375A>T
XM_017014586.1:c.7473-375A>T	XP_016870075.1:n.7473-375A>T
XR_001746957.1:n.92+648T>A
XR_001746958.1:n.92+648T>A