Canonical Allele Identifier: CA375219432

Gene: HMCN2

Linked Data

• COSMIC: COSM4387553
• MyVariant Identifiers: chr9:g.133308811C>G (hg19) ; chr9:g.130433424C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433424C>G , CM000671.2:g.130433424C>G	GRCh38
NC_000009.11:g.133308811C>G , CM000671.1:g.133308811C>G	GRCh37
NC_000009.10:g.132298632C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14914C>G	ENSP00000485357.2:p.Pro4972Ala
ENST00000683500.2:c.14971C>G MANE Select	ENSP00000508292.2:p.Pro4991Ala
ENST00000623487.1:n.3317C>G
ENST00000624552.3:c.14911C>G	ENSP00000485357.1:p.Pro4971Ala
NM_001291815.1:c.14971C>G	NP_001278744.1:p.Pro4991Ala
XM_011518465.1:c.14848C>G	XP_011516767.1:p.Pro4950Ala
XM_011518466.1:c.14839C>G	XP_011516768.1:p.Pro4947Ala
XM_011518467.1:c.14794C>G	XP_011516769.1:p.Pro4932Ala
NM_001291815.2:c.14971C>G MANE Select	NP_001278744.1:p.Pro4991Ala
XM_011518465.2:c.14848C>G	XP_011516767.1:p.Pro4950Ala
XM_011518466.2:c.14839C>G	XP_011516768.1:p.Pro4947Ala
XM_011518467.2:c.14794C>G	XP_011516769.1:p.Pro4932Ala
XM_017014585.1:c.11752C>G	XP_016870074.1:p.Pro3918Ala
XM_017014586.1:c.7549C>G	XP_016870075.1:p.Pro2517Ala
XR_001746957.1:n.92+197G>C
XR_001746958.1:n.92+197G>C