Canonical Allele Identifier: CA375219437

Gene: HMCN2

Linked Data

• MyVariant Identifiers: chr9:g.133308812C>G (hg19) ; chr9:g.130433425C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433425C>G , CM000671.2:g.130433425C>G	GRCh38
NC_000009.11:g.133308812C>G , CM000671.1:g.133308812C>G	GRCh37
NC_000009.10:g.132298633C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14915C>G	ENSP00000485357.2:p.Pro4972Arg
ENST00000683500.2:c.14972C>G MANE Select	ENSP00000508292.2:p.Pro4991Arg
ENST00000623487.1:n.3318C>G
ENST00000624552.3:c.14912C>G	ENSP00000485357.1:p.Pro4971Arg
NM_001291815.1:c.14972C>G	NP_001278744.1:p.Pro4991Arg
XM_011518465.1:c.14849C>G	XP_011516767.1:p.Pro4950Arg
XM_011518466.1:c.14840C>G	XP_011516768.1:p.Pro4947Arg
XM_011518467.1:c.14795C>G	XP_011516769.1:p.Pro4932Arg
NM_001291815.2:c.14972C>G MANE Select	NP_001278744.1:p.Pro4991Arg
XM_011518465.2:c.14849C>G	XP_011516767.1:p.Pro4950Arg
XM_011518466.2:c.14840C>G	XP_011516768.1:p.Pro4947Arg
XM_011518467.2:c.14795C>G	XP_011516769.1:p.Pro4932Arg
XM_017014585.1:c.11753C>G	XP_016870074.1:p.Pro3918Arg
XM_017014586.1:c.7550C>G	XP_016870075.1:p.Pro2517Arg
XR_001746957.1:n.92+196G>C
XR_001746958.1:n.92+196G>C