Canonical Allele Identifier: CA375219410

Gene: HMCN2

Linked Data

• dbSNP Id: rs1398613496
• gnomAD v2: 9-133308805-C-T
• gnomAD v4: 9-130433418-C-T
• MyVariant Identifiers: chr9:g.133308805C>T (hg19) ; chr9:g.130433418C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433418C>T , CM000671.2:g.130433418C>T	GRCh38
NC_000009.11:g.133308805C>T , CM000671.1:g.133308805C>T	GRCh37
NC_000009.10:g.132298626C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14908C>T	ENSP00000485357.2:p.Pro4970Ser
ENST00000683500.2:c.14965C>T MANE Select	ENSP00000508292.2:p.Pro4989Ser
ENST00000623487.1:n.3311C>T
ENST00000624552.3:c.14905C>T	ENSP00000485357.1:p.Pro4969Ser
NM_001291815.1:c.14965C>T	NP_001278744.1:p.Pro4989Ser
XM_011518465.1:c.14842C>T	XP_011516767.1:p.Pro4948Ser
XM_011518466.1:c.14833C>T	XP_011516768.1:p.Pro4945Ser
XM_011518467.1:c.14788C>T	XP_011516769.1:p.Pro4930Ser
NM_001291815.2:c.14965C>T MANE Select	NP_001278744.1:p.Pro4989Ser
XM_011518465.2:c.14842C>T	XP_011516767.1:p.Pro4948Ser
XM_011518466.2:c.14833C>T	XP_011516768.1:p.Pro4945Ser
XM_011518467.2:c.14788C>T	XP_011516769.1:p.Pro4930Ser
XM_017014585.1:c.11746C>T	XP_016870074.1:p.Pro3916Ser
XM_017014586.1:c.7543C>T	XP_016870075.1:p.Pro2515Ser
XR_001746957.1:n.92+203G>A
XR_001746958.1:n.92+203G>A