Canonical Allele Identifier: CA5283047

Gene: HMCN2

Linked Data

• dbSNP Id: rs776443465
• ExAC: 9:133308783 T / C
• gnomAD v2: 9-133308783-T-C
• gnomAD v4: 9-130433396-T-C
• MyVariant Identifiers: chr9:g.133308783T>C (hg19) ; chr9:g.130433396T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433396T>C , CM000671.2:g.130433396T>C	GRCh38
NC_000009.11:g.133308783T>C , CM000671.1:g.133308783T>C	GRCh37
NC_000009.10:g.132298604T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000624552.4:c.14886T>C	ENSP00000485357.2:p.Ser4962=
ENST00000683500.2:c.14943T>C MANE Select	ENSP00000508292.2:p.Ser4981=
ENST00000623487.1:n.3289T>C
ENST00000624552.3:c.14883T>C	ENSP00000485357.1:p.Ser4961=
NM_001291815.1:c.14943T>C	NP_001278744.1:p.Ser4981=
XM_011518465.1:c.14820T>C	XP_011516767.1:p.Ser4940=
XM_011518466.1:c.14811T>C	XP_011516768.1:p.Ser4937=
XM_011518467.1:c.14766T>C	XP_011516769.1:p.Ser4922=
NM_001291815.2:c.14943T>C MANE Select	NP_001278744.1:p.Ser4981=
XM_011518465.2:c.14820T>C	XP_011516767.1:p.Ser4940=
XM_011518466.2:c.14811T>C	XP_011516768.1:p.Ser4937=
XM_011518467.2:c.14766T>C	XP_011516769.1:p.Ser4922=
XM_017014585.1:c.11724T>C	XP_016870074.1:p.Ser3908=
XM_017014586.1:c.7521T>C	XP_016870075.1:p.Ser2507=
XR_001746957.1:n.92+225A>G
XR_001746958.1:n.92+225A>G