Canonical Allele Identifier: CA5283054

Gene: HMCN2

Linked Data

• dbSNP Id: rs532361947
• ExAC: 9:133308841 G / T
• gnomAD v2: 9-133308841-G-T
• gnomAD v3: 9-130433454-G-T
• gnomAD v4: 9-130433454-G-T
• MyVariant Identifiers: chr9:g.133308841G>T (hg19) ; chr9:g.130433454G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433454G>T , CM000671.2:g.130433454G>T	GRCh38
NC_000009.11:g.133308841G>T , CM000671.1:g.133308841G>T	GRCh37
NC_000009.10:g.132298662G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14944G>T	ENSP00000485357.2:p.Ala4982Ser
ENST00000683500.2:c.15001G>T MANE Select	ENSP00000508292.2:p.Ala5001Ser
ENST00000623487.1:n.3347G>T
ENST00000624552.3:c.14941G>T	ENSP00000485357.1:p.Ala4981Ser
NM_001291815.1:c.15001G>T	NP_001278744.1:p.Ala5001Ser
XM_011518465.1:c.14878G>T	XP_011516767.1:p.Ala4960Ser
XM_011518466.1:c.14869G>T	XP_011516768.1:p.Ala4957Ser
XM_011518467.1:c.14824G>T	XP_011516769.1:p.Ala4942Ser
NM_001291815.2:c.15001G>T MANE Select	NP_001278744.1:p.Ala5001Ser
XM_011518465.2:c.14878G>T	XP_011516767.1:p.Ala4960Ser
XM_011518466.2:c.14869G>T	XP_011516768.1:p.Ala4957Ser
XM_011518467.2:c.14824G>T	XP_011516769.1:p.Ala4942Ser
XM_017014585.1:c.11782G>T	XP_016870074.1:p.Ala3928Ser
XM_017014586.1:c.7579G>T	XP_016870075.1:p.Ala2527Ser
XR_001746957.1:n.92+167C>A
XR_001746958.1:n.92+167C>A