Canonical Allele Identifier: CA57550072

Gene: ACVR2A

Linked Data

• dbSNP Id: rs1042502627
• MyVariant Identifiers: chr2:g.148612394C>T (hg19) ; chr2:g.147854825C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.147854825C>T , CM000664.2:g.147854825C>T	GRCh38
NC_000002.11:g.148612394C>T , CM000664.1:g.148612394C>T	GRCh37
NC_000002.10:g.148328864C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241416.12:c.55+9618C>T MANE Select	ENSP00000241416.7:n.55+9618C>T
ENST00000241416.11:c.55+9618C>T	ENSP00000241416.7:n.55+9618C>T
ENST00000404590.1:c.55+9618C>T	ENSP00000384338.1:n.55+9618C>T
ENST00000462659.1:n.183+10119C>T
ENST00000465329.1:n.179+9618C>T
ENST00000487959.5:n.190+10119C>T
ENST00000535787.5:c.-207+10119C>T	ENSP00000439988.1:n.-207+10119C>T
NM_001278579.1:c.55+9618C>T	NP_001265508.1:n.55+9618C>T
NM_001278580.1:c.-207+10119C>T	NP_001265509.1:n.-207+10119C>T
NM_001616.4:c.55+9618C>T	NP_001607.1:n.55+9618C>T
XM_005263843.2:c.55+9618C>T	XP_005263900.1:n.55+9618C>T
NM_001616.5:c.55+9618C>T MANE Select	NP_001607.1:n.55+9618C>T
NM_001278579.2:c.55+9618C>T	NP_001265508.1:n.55+9618C>T
NM_001278580.2:c.-207+10119C>T	NP_001265509.1:n.-207+10119C>T